The DOI matches its Crossref record; 47 of the 48 references it cites were found in a registry or an index; 34 of the 60 sources its claims cite were checked for support.
The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review
Open accessAbstract
Patients with the 15q11.2 BP1–BP2 microdeletion can present with developmental and language delay, neurobehavioral disturbances and psychiatric problems. Autism, seizures, schizophrenia and mild dysmorphic features are less commonly seen. The 15q11.2 BP1–BP2 microdeletion involving four genes (i.e., TUBGCP5, CYFIP1, NIPA1, NIPA2) is emerging as a recognized syndrome with a prevalence ranging from 0.57%–1.27% of patients presenting for microarray analysis which is a two to four fold increase compared with controls. Review of clinical features from about 200 individuals were grouped into five categories and included developmental (73%) and speech (67%) delays; dysmorphic ears (46%) and palatal anomalies (46%); writing (60%) and reading (57%) difficulties, memory problems (60%) and verbal IQ scores ≤75 (50%); general behavioral problems, unspecified (55%) and abnormal brain imaging (43%). Other clinical features noted but not considered as common were seizures/epilepsy (26%), autism spectrum disorder (27%), attention deficit disorder (ADD)/attention deficit hyperactivity disorder (ADHD) (35%), schizophrenia/paranoid psychosis (20%) and motor delay (42%). Not all individuals with the deletion are clinically affected, yet the collection of findings appear to share biological pathways and presumed genetic mechanisms. Neuropsychiatric and behavior disturbances and mild dysmorphic features are associated with genomic imbalances of the 15q11.2 BP1–BP2 region, including microdeletions, but with an apparent incomplete penetrance and variable expressivity.
Overview
AI snapshot
Written from the paper’s full text.
TL;DR
The 15q11.2 BP1–BP2 microdeletion (Burnside-Butler syndrome) is a recognized susceptibility locus involving four non-imprinted genes and associated with developmental, speech, behavioral, psychiatric, and mild dysmorphic features with incomplete penetrance and variable expressivity. This review summarizes clinical features from about 200 reported individuals and estimates prevalence at 0.57%–1.27% among patients presenting for microarray analysis.
Key findings
- The microdeletion involves four genes—TUBGCP5, CYFIP1, NIPA1, and NIPA2—and prevalence ranges from 0.57%–1.27% of patients presenting for microarray analysis, a two- to four-fold increase compared with controls; about 0.25% of control cohorts (n = 66,462) carried the deletion.
- Common features from about 200 individuals included developmental delay (73%), speech delay (67%), dysmorphic ears (46%), palatal anomalies (46%), writing difficulties (60%), reading difficulties (57%), memory problems (60%), verbal IQ ≤75 (50%), general behavioral problems unspecified (55%), and abnormal brain imaging (43%).
- Less common features included seizures/epilepsy (26%), autism spectrum disorder (27%), ADD/ADHD (35%), schizophrenia/paranoid psychosis (20%), and motor delay (42%).
- Penetrance was estimated at 10.4%, with incomplete penetrance and variable expressivity; among individuals with parental data, 22/43 (51%) inherited the deletion from an apparently healthy parent and 10/29 (35%) from an abnormal parent, while reported de novo frequency ranged from 5%–22%.
Methods
- Literature review of published reports on individuals with the 15q11.2 BP1–BP2 microdeletion, summarizing clinical features from about 200 individuals.
- Features were grouped into five categories: growth and development, dysmorphic features, intelligence and academic achievement, behavioral and psychiatric problems, and other related medical concerns.
- Main analysis was descriptive aggregation of frequencies and percentages across studies, presented in Tables 1–5; no new primary data were generated.
Limitations
- The paper states that not all individuals with the deletion are clinically affected, and the region shows incomplete penetrance and variable expressivity; penetrance estimates may be limited by paucity of inheritance data.
- The paper states that phenotypic information was unavailable or incomplete for all parents found to carry the deletion, and that further DNA sequencing of the non-deleted allele, studies of modifying genes, and neuropsychiatric testing of family members are needed.
- The paper notes that very few individuals were reported for some intelligence/academic findings, so further studies are needed; evident from the tables, several features have very small denominators (e.g., verbal IQ ≤75, 2/4; performance IQ ≤75, 1/3; reading difficulties, 4/7; writing difficulties, 3/5; memory problems, 3/5), and the review relies on heterogeneous published cohorts without standardized phenotyping.
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Claims the paper makes
34 of 60 cited sources checked · 18 supported · 0 flagged · accuracy not yet measured
The cited sources support only part of this claim — read each source’s verdict below.
In the paper
“Several studies have shown that individuals with the larger typical 15q11–q13 type I deletion which is found in both Prader-Willi and Angelman syndromes are reported to have more severe neurodevelopmental symptoms as compared to those individuals with the smaller typical type II deletion [5,6,7,8,9,10].”
§ The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review > 1. Introduction
What the sources say
- Partly supportedcites [5] Butler, 2004, Behavioral differences among subjects with Prader-Willi syndrome and type I or type II deletion and maternal disomy, Pediatrics sourceExperimental — accuracy not yet measured
The Abstract reports that type I deletions are larger than type II deletions and that people with Prader-Willi syndrome and type I deletions generally had more behavioral and psychological problems. The study did not compare deletion types in Angelman syndrome, and the Discussion cautions that most measured characteristics did not differ significantly between deletion groups. It therefore supports the Prader-Willi portion, not the claim across both syndromes. (LLM, conf=0.88)
- Partly supportedcites [6] Bittel, 2006, Expression of 4 genes between chromosome 15 breakpoints 1 and 2 and behavioral outcomes in Prader-Willi syndrome, Pediatrics sourceExperimental — accuracy not yet measured
The Abstract reports that people with Prader-Willi syndrome and the larger type I deletion generally had poorer behavioral and academic outcomes than those with the smaller type II deletion. The cited paper does not report the corresponding symptom comparison for Angelman syndrome, so it supports only the Prader-Willi portion of the claim. (LLM, conf=0.87)
- Not checked — no full text of the sourcecites [7] Hartley, 2005, Maladaptive behaviors and risk factors among the genetic subtypes of Prader-Willi syndrome, Am. J. Med. Genet. A source
- Not checked — no full text of the sourcecites [8] Milner, 2005, Prader-Willi syndrome: Intellectual abilities and behavioural features by genetic subtype, J. Child Psychol. Psychiatry source
- Partly supportedcites [9] Sahoo, 2007, Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: Molecular characterization and genotype-phenotype correlations, Eur. J. Hum. Genet. sourceExperimental — accuracy not yet measured
The Introduction and Discussion report that children with Angelman syndrome and larger class I deletions had greater cognitive and behavioral impairment than those with class II deletions. The paper identifies these as common AS/PWS deletion types, but the cited comparison of neurodevelopmental symptoms concerns Angelman syndrome; it does not establish the same comparison for Prader-Willi syndrome. (LLM, conf=0.86)
- Not checked — no full text of the sourcecites [10] Varela, 2005, Impact of molecular mechanisms, including deletion size, on Prader-Willi syndrome phenotype: Study of 75 patients, Clin. Genet. source
Strength:plain· not yet calibratedCausal:correlational· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes? Load-bearing: unclear✓ Based: passes- Partly supported
Every source the paper cites for this claim was checked and supports it.
In the paper
“The NIPA2 gene accounted for the largest number of significant correlations between the mRNA levels and phenotypic features.”
§ The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review > 1. Introduction
What the sources say
- Supportedcites [6] Bittel, 2006, Expression of 4 genes between chromosome 15 breakpoints 1 and 2 and behavioral outcomes in Prader-Willi syndrome, Pediatrics source
The Discussion explicitly says that a larger number of phenotypic parameters had significant correlations with NIPA2 mRNA levels than with the other genes examined. This directly supports the citing sentence. (LLM, conf=0.94)
Strength:plain· not yet calibratedCausal:correlational· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes? Load-bearing: unclear✓ Based: passes- Supported
Every source the paper cites for this claim was checked and supports it.
In the paper
“The 15q11.2 BP1–BP2 microdeletion involving four genes (i.e., TUBGCP5, CYFIP1, NIPA1, NIPA2) is emerging as a recognized syndrome”
§ The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review > Abstract
What the sources say
- Supportedcites [19] Chai, 2003, Identification of four highly conserved genes between breakpoint hotspots BP1 and BP2 of the Prader-Willi/Angelman syndromes deletion region that have undergone evolutionary transposition mediated by flanking duplicons, Am. J. Hum. Genet. source
The Abstract identifies CYFIP1, GCP5, NIPA1, and NIPA2 as the four genes between BP1 and BP2. The Results state that GCP5 is also known as TUBGCP5 and discuss deletion of the four genes in this region. This supports the attributed description of the microdeletion; the separate claim that it is an emerging recognized syndrome is not part of the quoted attribution. (LLM, conf=0.94)
Strength:plain· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes? Load-bearing: unclear✓ Based: passes- Supported
Every source the paper cites for this claim was checked and supports it.
In the paper
“The penetrance of the 15q11.2 BP1–BP2 microdeletion has also been estimated at 10.4% [28] or an approximate two fold increase over the general population risk but may be due to paucity of inheritance data.”
§ The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review > 1. Introduction
What the sources say
- Supportedcites [28] Rosenfeld, 2013, Estimates of penetrance for recurrent pathogenic copy-number variants, Genet Med. source
The Results section estimates penetrance for 15q11.2 deletions at 10.4% (95% CI, 8.45–12.7%) and describes this as about a twofold increase over background risk. This supports the estimate attributed to the source. (LLM, conf=0.95)
Strength:hedged· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes? Load-bearing: unclear✓ Based: passes- Supported
The cited sources support only part of this claim — read each source’s verdict below.
In the paper
“Chaste et al. [32] found a small risk regarding this microdeletion and autism but a greater effect on the autism phenotype in males and when maternally inherited.”
§ The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review > 2. Results and Discussion > 2.4. Behavioral and Psychiatric Problems
What the sources say
- Partly supportedcites [32] Chaste, 2014, Modest impact on risk for Autism Spectrum Disorder of rare copy number variants at 15q11.2, specifically breakpoints 1 to 2, Autism Res. sourceExperimental — accuracy not yet measured
The Discussion says SRS analyses suggested that males might be more sensitive to the CNV, with a greater effect in fathers than mothers. This was a tentative finding about autism-related social responsiveness in relatives, not an established greater effect on the autism phenotype generally; the same section reports no effect on phenotype severity in probands. (LLM, conf=0.87)
Strength:plain· not yet calibratedCausal:correlational· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes? Load-bearing: unclear✓ Based: passes- Partly supported
The cited sources support only part of this claim — read each source’s verdict below.
In the paper
“The review of literature from six published reports summarized by Cafferkey et al. [18] regarding information on the inheritance of the 15q11.2 BP1–BP2 microdeletion indicates that 22/43 (51%) of individuals with the microdeletion, where parental data were available, inherited their deletion from an apparently healthy parent while 10/29 (35%) of individuals inherited their deletion from an abnorma”
§ The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review > 1. Introduction
What the sources say
- Partly supportedcites [13] Burnside, 2011, Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: A susceptibility region for neurological dysfunction including developmental and language delay, Hum. Genet. sourceExperimental — accuracy not yet measured
The Results (Other; page unavailable) report individuals who inherited a BP1–BP2 deletion from phenotypically normal parents, supporting that such inheritance occurs. The Results (Parental follow-up studies; page unavailable) give different follow-up counts; our copy does not report the claimed 22/43 (51%) figure or establish it for individuals with available parental data. (LLM, conf=0.86)
- Not checked — no full text of the sourcecites [15] Murthy, 2007, Detection of a novel familial deletion of four genes between BP1 and BP2 of the Prader-Willi/Angelman syndrome critical region by oligo-array CGH in a child with neurological disorder and speech impairment, Cytogenet. Genome Res. source
- Not checked — no full text of the sourcecites [16] Doornbos, 2009, Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader-Willi critical region, possibly associated with behavioral disturbances, Eur. J. Med. Genet. source
- Not checked — no full text of the sourcecites [17] Abdelmoity, 2012, 15q11.2 proximal imbalances associated with a diverse array of neuropsychiatric disorders and mild dysmorphic features, J. Dev. Behav. Pediatr. source
- Not checked — no full text of the sourcecites [33] Madrigal, 2012, 15q11.2 microdeletion and FMR1 premutation in a family with intellectual disabilities and autism, Gene source
- Not checked — no full text of the sourcecites [34] Rustad, 2011, 15q11.2 microdeletion—Seven new patients with delayed development and/or behavioral problems, Eur. J. Med. Genet. source
Strength:hedged· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes? Load-bearing: unclear✓ Based: passes- Partly supported
The sources with a verdict support this claim; the rest weren’t checked yet, have no full text we could read, or their verdicts aren’t rated yet.
In the paper
“The medical literature surrounding this microdeletion syndrome and seizures indicate that this chromosomal anomaly may be a risk factor for epilepsy [29,41,42,43].”
§ The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review > 2. Results and Discussion > 2.5. Other Related Medical Concerns
What the sources say
- Supportedcites [29] Trucks, 2010, Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies, Brain source
The Abstract reports a significant association between 15q11.2 microdeletions and idiopathic generalized epilepsy. The Discussion likewise says these microdeletions seem to confer genetic risk for that form of epilepsy. The paper does not use the BP1–BP2 label in the cited passages, but its finding supports the citing sentence’s hedged risk-factor claim. (LLM, conf=0.91)
- Not checked — no full text of the sourcecites [41] Helbig, 2012, The unexpected role of copy number variations in juvenile myocolonic epilepsy, Epilepsy Behav. source
- Not checked — no full text of the sourcecites [42] Jahn, 2014, Iterative phenotyping of 15q11.2, 15q13.3 and 16p13.11 microdeletion carriers in pediatric epilepsies, Epilepsy Res. source
- Supportedcites [43] Mullen, 2013, Copy number variants are frequent in genetic generalized epilepsy with intellectual disability, Neurology source
Table 1 (DISCUSSION; page not provided) reports the 15q11.2 microdeletion in 1.4% of people with genetic generalized epilepsy versus 0.2% of controls, with an odds ratio of 5 (95% CI 1.5–12). This supports the cautious claim that the deletion may be an epilepsy risk factor, specifically for genetic generalized epilepsy. (LLM, conf=0.91)
Strength:hedged· not yet calibratedCausal:conditional· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes? Load-bearing: unclear✓ Based: passes- Supported
Every source the paper cites for this claim was checked and supports it.
In the paper
“They reported an overall modest effect for this copy number variant for autism in studying a sample of 2525 families with autism [32].”
- Also stated in: § 2.4. Behavioral and Psychiatric Problems · plain
“Chaste et al. [32] found a small risk regarding this microdeletion and autism but a greater effect on the autism phenotype in males and when maternally inherited.”
§ The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review > 2. Results and Discussion > 2.4. Behavioral and Psychiatric Problems
What the sources say
- Supportedcites [32] Chaste, 2014, Modest impact on risk for Autism Spectrum Disorder of rare copy number variants at 15q11.2, specifically breakpoints 1 to 2, Autism Res. source
The Discussion says the BP1–BP2 variants have a modest impact on ASD risk and specifically reports lower estimated penetrance for the deletion than the duplication. The Results report deletion frequencies in a sample with 2,525 fathers and 2,525 mothers; they estimate the deletion’s additional ASD risk at about 3 in 1,000. The paper did not find a statistically significant deletion–ASD association in this sample, but the claim does not assert one. (LLM, conf=0.92)
Tests✓ Asserted: passes✓ Checkable: passes? Load-bearing: unclear✓ Based: passes- Also stated in: § 2.4. Behavioral and Psychiatric Problems · plain
The cited sources support only part of this claim — read each source’s verdict below.
In the paper
“The review of literature from six published reports summarized by Cafferkey et al. [18] regarding information on the inheritance of the 15q11.2 BP1–BP2 microdeletion indicates that 22/43 (51%) of individuals with the microdeletion, where parental data were available, inherited their deletion from an apparently healthy parent while 10/29 (35%) of individuals inherited their deletion from an abnorma”
§ The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review > 1. Introduction
What the sources say
- Partly supportedcites [13] Burnside, 2011, Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: A susceptibility region for neurological dysfunction including developmental and language delay, Hum. Genet. sourceExperimental — accuracy not yet measured
The Results section (‘Parental follow-up studies’; page unavailable) reports that four parents with deletions out of 11 with clinical and family histories had a positive family or self history of features seen in the proband. This supports inheritance from some parents with reported features, but the paper does not report the claimed 10/29 (35%) figure. (LLM, conf=0.85)
- Not checked — no full text of the sourcecites [15] Murthy, 2007, Detection of a novel familial deletion of four genes between BP1 and BP2 of the Prader-Willi/Angelman syndrome critical region by oligo-array CGH in a child with neurological disorder and speech impairment, Cytogenet. Genome Res. source
- Not checked — no full text of the sourcecites [16] Doornbos, 2009, Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader-Willi critical region, possibly associated with behavioral disturbances, Eur. J. Med. Genet. source
- Not checked — no full text of the sourcecites [17] Abdelmoity, 2012, 15q11.2 proximal imbalances associated with a diverse array of neuropsychiatric disorders and mild dysmorphic features, J. Dev. Behav. Pediatr. source
- Not checked — no full text of the sourcecites [33] Madrigal, 2012, 15q11.2 microdeletion and FMR1 premutation in a family with intellectual disabilities and autism, Gene source
- Not checked — no full text of the sourcecites [34] Rustad, 2011, 15q11.2 microdeletion—Seven new patients with delayed development and/or behavioral problems, Eur. J. Med. Genet. source
Strength:hedged· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes? Load-bearing: unclear✓ Based: passes- Partly supported
Every source the paper cites for this claim was checked and supports it.
In the paper
“The penetrance of the 15q11.2 BP1–BP2 microdeletion has also been estimated at 10.4% [28] or an approximate two fold increase over the general population risk but may be due to paucity of inheritance data.”
§ The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review > 1. Introduction
What the sources say
- Supportedcites [28] Rosenfeld, 2013, Estimates of penetrance for recurrent pathogenic copy-number variants, Genet Med. source
The Results state that the 10.4% penetrance estimate for 15q11.2 deletions represents about a twofold increase over background population risk. The Materials and Methods specify a background risk of 5.12%. (LLM, conf=0.95)
Strength:hedged· not yet calibratedCausal:direct· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes? Load-bearing: unclear✓ Based: passes- Supported
- It may state two separate claims as one. 17
- Probably not a substantial claim. 17
The cited sources support only part of this claim — read each source’s verdict below.
In the paper
“PWS individuals with type I deletions showed more compulsive and self-injurious behaviors and visual perception impairment along with lower intelligence, reading and math scores than in those with type II deletions.”
§ The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review > 1. Introduction
What the sources say
- Partly supportedcites [5] Butler, 2004, Behavioral differences among subjects with Prader-Willi syndrome and type I or type II deletion and maternal disomy, Pediatrics sourceExperimental — accuracy not yet measured
The Discussion (page unavailable) reports more compulsive behavior and poorer visual perception with type I than type II deletions. The Results and Abstract also support poorer reading and math performance and lower intellectual ability. But the Discussion explicitly says those with type I deletions did not display more self-injury than those with type II deletions. (LLM, conf=0.91)
Strength:plain· not yet calibratedCausal:correlational· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes? Load-bearing: unclear✓ Based: passesIt may state two separate claims as one.
- Partly supported
Every source the paper cites for this claim was checked and supports it.
In the paper
“Recently, individuals have been reported with the 15q11.2 BP1–BP2 microdeletion and additional non-neurological clinical findings. These findings included congenital cataracts [14,35], proximal esophageal atresia and distal tracheoesophageal fistula (type C) [35] and congenital arthrogryposis [36].”
§ The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review > 1. Introduction
What the sources say
- Supportedcites [14] Jerkovich, 2014, Further phenotypic expansion of 15q11.2 BP1–BP2 microdeletion (Burnside-Butler) syndrome, J. Pediatr. Genet. source
Split into 2 atoms — 2 confirmed, 0 partially supported, 0 disputed, 0 misattributed, 0 unverifiable. Expand the claim to see per-atom verdicts.
- Supportedcites [35] Wong, D., Johnson, S.M., Young, D., Iwamoto, L., Sood, S., and Slavin, T.P. (2013). Expanding the BP1–BP2 15q11.2 microdeletion phenotype: Tracheoesophageal fistula and congenital cataracts. Case Rep. Genet., 2003. source
Split into 2 atoms — 2 confirmed, 0 partially supported, 0 disputed, 0 misattributed, 0 unverifiable. Expand the claim to see per-atom verdicts.
- Supportedcites [36] Usrey, K.M., Williams, C.A., Dasouki, M., Fairbrother, L.C., and Butler, M.G. (2014). Congenital arthrogryposis: An extension of the 15q11.2 BP1–BP2 microdeletion syndrome?. Case Rep. Genet., 2004. source
The citation to this paper is attached specifically to congenital arthrogryposis, not to cataracts or tracheoesophageal abnormalities. The Introduction and Case Reports describe two unrelated people with both congenital arthrogryposis and a 15q11.2 BP1–BP2 microdeletion. The paper notes that the co-occurrence may be coincidental, but the citing sentence claims only that such individuals were reported. (LLM, conf=0.94)
Tests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✓ Based: passesIt may state two separate claims as one.
- Supported
Every source the paper cites for this claim was checked and supports it.
In the paper
“Sahoo et al. [9] reported that in individuals with Angelman syndrome and the 15q11–q13 type I deletion had significantly more behavioral and cognitive impairments with lower expressive and total language abilities and a higher likelihood of features for autism spectrum disorder.”
§ The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review > 1. Introduction
What the sources say
- Supportedcites [9] Sahoo, 2007, Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: Molecular characterization and genotype-phenotype correlations, Eur. J. Hum. Genet. source
The Discussion reports that children with Angelman syndrome and class I deletions were significantly more impaired cognitively and behaviorally. It also describes a trend toward lower expressive and total language abilities and a greater likelihood of meeting criteria for autism; the claim does not assert that those latter differences were statistically significant. (LLM, conf=0.91)
Strength:plain· not yet calibratedCausal:correlational· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes✗ Load-bearing: fails✓ Based: passesProbably not a substantial claim. The paper’s conclusions may not depend on it. It may state two separate claims as one.
- Supported
Every source the paper cites for this claim was checked and supports it.
In the paper
“Rees et al. [40] found a significant association between the microdeletion and schizophrenia with the frequency of individuals having schizophrenia and the microdeletion from their study was 0.64 (44/6882).”
§ The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review > 2. Results and Discussion > 2.4. Behavioral and Psychiatric Problems
What the sources say
- Supportedcites [40] Rees, 2014, Analysis of copy number variations at 15 schizophrenia-associated loci, Br. J. Psychiatry source
Table 1 in the Results reports 44 15q11.2 deletion carriers among 6,882 schizophrenia cases, a frequency of 0.64%, with P = 0.046. The Discussion calls this independent significant evidence of association. The citing sentence omits the percent sign after 0.64, but its count and denominator match the table. (LLM, conf=0.94)
Strength:plain· not yet calibratedCausal:correlational· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes? Load-bearing: unclear✓ Based: passesIt may state two separate claims as one.
- Supported
Every source the paper cites for this claim was checked and supports it.
In the paper
“Chai et al. [19] showed that these four genes are highly conserved and biallelically expressed.”
§ The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review > 1. Introduction
What the sources say
- Supportedcites [19] Chai, 2003, Identification of four highly conserved genes between breakpoint hotspots BP1 and BP2 of the Prader-Willi/Angelman syndromes deletion region that have undergone evolutionary transposition mediated by flanking duplicons, Am. J. Hum. Genet. source
The Abstract describes conservation of the four-gene BP1–BP2 cassette and identifies NIPA1 and NIPA2 as highly conserved. The Discussion reports that all four genes were nonimprinted in the tested human cells, supporting the claim of biallelic expression in that context. (LLM, conf=0.90)
Strength:plain· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes✗ Load-bearing: fails✓ Based: passesProbably not a substantial claim. The paper’s conclusions may not depend on it. It may state two separate claims as one.
- Supported
Every source the paper cites for this claim was checked and supports it.
In the paper
“Collectively, they summarized that a deletion involving this genomic region correlated with language or motor delays, behavioral problems, autism, seizures and occasionally mild dysmorphic features.”
§ The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review > 1. Introduction
What the sources say
- Supportedcites [13] Burnside, 2011, Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: A susceptibility region for neurological dysfunction including developmental and language delay, Hum. Genet. source
The Abstract associates BP1–BP2 copy-number changes with speech and motor delays, behavioral problems, seizures, and autism. The Introduction reports mildly dysmorphic features in individuals with deletions, and the Results’ Seizures section describes the deletion as a possible seizure susceptibility factor. The source presents these as associations, not inevitable effects; page numbers were not provided in our copy. (LLM, conf=0.90)
Tests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✓ Based: passesIt may state two separate claims as one.
- Supported
Every source the paper cites for this claim was checked and supports it.
In the paper
“Specifically, 69 subjects were found with the 15q11.2 microdeletion and 77 subjects were found with a microduplication of the same region.”
§ The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review > 1. Introduction
What the sources say
- Supportedcites [13] Burnside, 2011, Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: A susceptibility region for neurological dysfunction including developmental and language delay, Hum. Genet. source
The Results section reports that, among approximately 17,000 subjects referred for microarray analysis, 69 had a deletion and 77 had a duplication of the BP1–BP2 region of proximal 15q11.2. These are the counts attributed to Burnside et al. (LLM, conf=0.95)
Strength:plain· not yet calibratedn = 69Tests✓ Asserted: passes✓ Checkable: passes? Load-bearing: unclear✓ Based: passesIt may state two separate claims as one.
- Supported
The cited sources support only part of this claim — read each source’s verdict below.
In the paper
“Low penetrance estimates may relate to subclinical manifestations of neuropsychiatric/behavioral problems or incomplete information about the parents of individuals with 15q11.2 BP1–BP2 microdeletion or members of control cohorts [44].”
§ The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review > 3. Conclusions
What the sources say
- Partly supportedcites [44] Girirajan, 2010, A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay, Nat. Genet. sourceExperimental — accuracy not yet measured
The Discussion (page unavailable) says subtle features of the 16p12.1 microdeletion may lead to under-ascertainment, and it reports neuropsychiatric features in carrier parents. It does not establish this explanation for low penetrance estimates of the distinct 15q11.2 BP1–BP2 microdeletion or attribute those estimates to incomplete information about parents or control cohorts. (LLM, conf=0.79)
Tests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✓ Based: passesIt may state two separate claims as one.
- Partly supported
Every source the paper cites for this claim was checked and supports it.
In the paper
“NIPA1 or non-imprinted in Prader-Willi/Angelman syndrome 1 gene is the best studied gene within this region and associated with autosomal dominant hereditary spastic paraplegia [20,21].”
§ The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review > 1. Introduction
What the sources say
- Supportedcites [20] Chen, 2005, Distinct novel mutations affecting the same base in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia in two Chinese families, Hum. Mutat. source
The Introduction identifies NIPA1 as the gene underlying autosomal dominant spastic paraplegia 6. The Discussion reports NIPA1 mutations responsible for autosomal dominant hereditary spastic paraplegia in two Chinese families. (LLM, conf=0.94)
- Supportedcites [21] Rainier, 2003, NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6), Am. J. Hum. Genet. source
The paper’s opening summary reports a NIPA1 mutation in two unrelated kindreds with autosomal dominant hereditary spastic paraplegia. Its concluding discussion states that NIPA1 mutations cause SPG6-linked hereditary spastic paraplegia. The supplied passages do not give page numbers. (LLM, conf=0.95)
Strength:plain· not yet calibratedCausal:correlational· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes✗ Load-bearing: fails✓ Based: passesProbably not a substantial claim. The paper’s conclusions may not depend on it.
- Supported
Every source the paper cites for this claim was checked and supports it.
In the paper
“They found that 0.86% of the approximate 17,000 individuals had an abnormality (deletion or duplication) of the 15q11.2 BP1–BP2 region.”
§ The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review > 1. Introduction
What the sources say
- Supportedcites [13] Burnside, 2011, Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: A susceptibility region for neurological dysfunction including developmental and language delay, Hum. Genet. source
The Results report that, among approximately 17,000 individuals referred for microarray analysis, 69 (0.41%) had a BP1–BP2 deletion and 77 (0.45%) had a duplication, totaling 0.86%. The claim accurately reflects that finding. (LLM, conf=0.95)
Strength:plain· not yet calibratedn = 69Tests✓ Asserted: passes✓ Checkable: passes✗ Load-bearing: fails✓ Based: passesProbably not a substantial claim. The paper’s conclusions may not depend on it.
- Supported
The cited sources support only part of this claim — read each source’s verdict below.
In the paper
“The penetrance for the 15q11.2 microdeletion is low compared to other microdeletion syndromes such as the 16p11.2 deletion with a penetrance estimated at 62.4% [28].”
§ The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review > 1. Introduction
What the sources say
- Partly supportedcites [28] Rosenfeld, 2013, Estimates of penetrance for recurrent pathogenic copy-number variants, Genet Med. sourceExperimental — accuracy not yet measured
The Results report 10.4% penetrance for 15q11.2 deletions versus 62.4% for *distal* 16p11.2 deletions. The cited sentence omits “distal,” making the 62.4% estimate sound applicable to 16p11.2 deletions generally; the paper also distinguishes proximal deletions. (LLM, conf=0.88)
Strength:hedged· not yet calibratedCausal:correlational· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes? Load-bearing: unclear✓ Based: passesIt may state two separate claims as one.
- Partly supported
A result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“Autism, seizures, schizophrenia and mild dysmorphic features are less commonly seen.”
§ The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review > Abstract
Strength:plain· not yet calibratedn = 200Tests✓ Asserted: passes✓ Checkable: passes? Load-bearing: unclear✓ Based: passesIt may state two separate claims as one.
A result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“Patients with the 15q11.2 BP1–BP2 microdeletion can present with developmental and language delay, neurobehavioral disturbances and psychiatric problems.”
§ The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review > Abstract
Tests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✓ Based: passesIt may state two separate claims as one.
The paper states this without a source or data behind it here, so there is nothing to check it against. The quote shows it is in the paper.
In the paper
“Occasional features seen within the literature regarding medical conditions included congenital heart defect (9%), genital abnormalities (7%), recurrent infections (7%), cataracts (4%), hearing loss or impairment (4%), tracheoesophageal fistula (2%), and omphalocele (2%).”
§ The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review > 2. Results and Discussion > 2.5. Other Related Medical Concerns
Strength:plain· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes✗ Load-bearing: fails✓ Based: passesProbably not a substantial claim. The paper’s conclusions may not depend on it.
- Rests on an assumption: The individuals reported in the reviewed literature are representative of the broader population with the 15q11.2 BP1–BP2 microdeletion.
The paper states this without a source or data behind it here, so there is nothing to check it against. The quote shows it is in the paper.
In the paper
“Not all individuals with defects within the 15q11.2 band (i.e., microdeletions or microduplications) share a clinical phenotype or are clinically affected.”
§ The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review > 1. Introduction
Load-bearingStrength:plain· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✓ Based: passesIt may state two separate claims as one.
None of the sources cited for this claim have been checked yet.
In the paper
“Occasionally, reported behavioral features within the literature included an unusually happy expression (12%) and anxiety (6%) [16,34].”
§ The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review > 2. Results and Discussion > 2.4. Behavioral and Psychiatric Problems
Strength:plain· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes✗ Load-bearing: fails✓ Based: passesProbably not a substantial claim. The paper’s conclusions may not depend on it.
- Rests on an assumption: The individuals reported in the reviewed literature are representative of the broader population with the 15q11.2 BP1–BP2 microdeletion.
A result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“Occasional features seen within the literature regarding medical conditions included congenital heart defect (9%), genital abnormalities (7%), recurrent infections (7%), cataracts (4%), hearing loss or impairment (4%), tracheoesophageal fistula (2%), and omphalocele (2%).”
§ The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review > 2. Results and Discussion > 2.5. Other Related Medical Concerns
Strength:plain· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes✗ Load-bearing: fails✓ Based: passesProbably not a substantial claim. The paper’s conclusions may not depend on it.
- Rests on an assumption: The individuals reported in the reviewed literature are representative of the broader population with the 15q11.2 BP1–BP2 microdeletion.
The paper states this without a source or data behind it here, so there is nothing to check it against. The quote shows it is in the paper.
In the paper
“The 15q11.2 BP1–BP2 microdeletion (Burnside-Butler) syndrome is now a recognized condition with over 200 individuals identified from the literature using chromosomal microarray analysis.”
§ The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review > 3. Conclusions
Tests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✓ Based: passesIt may state two separate claims as one.
- Rests on an assumption: The individuals reported in the reviewed literature are representative of the broader population with the 15q11.2 BP1–BP2 microdeletion.
A result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“Occasional features seen within the literature regarding medical conditions included congenital heart defect (9%), genital abnormalities (7%), recurrent infections (7%), cataracts (4%), hearing loss or impairment (4%), tracheoesophageal fistula (2%), and omphalocele (2%).”
§ The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review > 2. Results and Discussion > 2.5. Other Related Medical Concerns
Strength:plain· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes✗ Load-bearing: fails✓ Based: passesProbably not a substantial claim. The paper’s conclusions may not depend on it.
- Rests on an assumption: The individuals reported in the reviewed literature are representative of the broader population with the 15q11.2 BP1–BP2 microdeletion.
A result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“Occasional features seen within the literature regarding medical conditions included congenital heart defect (9%), genital abnormalities (7%), recurrent infections (7%), cataracts (4%), hearing loss or impairment (4%), tracheoesophageal fistula (2%), and omphalocele (2%).”
§ The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review > 2. Results and Discussion > 2.5. Other Related Medical Concerns
Strength:plain· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes✗ Load-bearing: fails✓ Based: passesProbably not a substantial claim. The paper’s conclusions may not depend on it.
- Rests on an assumption: The individuals reported in the reviewed literature are representative of the broader population with the 15q11.2 BP1–BP2 microdeletion.
The paper states this without a source or data behind it here, so there is nothing to check it against. The quote shows it is in the paper.
In the paper
“There has been no case to date where haploinsufficiency of NIPA1 due to a deletion has led to hereditary spastic paraplegia.”
§ The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review > 1. Introduction
Strength:plain· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes✗ Load-bearing: fails✗ Based: failsProbably not a substantial claim. The paper’s conclusions may not depend on it. The paper may give no reason why it holds.
A result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“Occasional features seen within the literature regarding medical conditions included congenital heart defect (9%), genital abnormalities (7%), recurrent infections (7%), cataracts (4%), hearing loss or impairment (4%), tracheoesophageal fistula (2%), and omphalocele (2%).”
§ The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review > 2. Results and Discussion > 2.5. Other Related Medical Concerns
Strength:plain· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes✗ Load-bearing: fails✓ Based: passesProbably not a substantial claim. The paper’s conclusions may not depend on it.
- Rests on an assumption: The individuals reported in the reviewed literature are representative of the broader population with the 15q11.2 BP1–BP2 microdeletion.
In the paper
“Varela et al. [10] found that individuals with PWS having 15q11–q13 type I deletions acquired speech later than those with type II deletions.”
§ The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review > 1. Introduction
What the sources say
- Not checked — no full text of the sourcecites [10] Varela, 2005, Impact of molecular mechanisms, including deletion size, on Prader-Willi syndrome phenotype: Study of 75 patients, Clin. Genet. source
Strength:plain· not yet calibratedCausal:correlational· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes✗ Load-bearing: fails✓ Based: passesProbably not a substantial claim. The paper’s conclusions may not depend on it.
In the paper
“Hartley et al. [7] also found that individuals with PWS having type I deletions had significantly higher Reiss maladaptive behavior scores for depression (physical signs) than individuals with type II deletions.”
§ The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review > 1. Introduction
What the sources say
- Not checked — no full text of the sourcecites [7] Hartley, 2005, Maladaptive behaviors and risk factors among the genetic subtypes of Prader-Willi syndrome, Am. J. Med. Genet. A source
Strength:plain· not yet calibratedCausal:correlational· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes✗ Load-bearing: fails✓ Based: passesProbably not a substantial claim. The paper’s conclusions may not depend on it.
A conclusion the paper draws from its own results — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“Clinically, neurological dysfunction, developmental and language delay are the most commonly associated findings followed by motor delay, ADD/ADHD and autism spectrum disorder showing incomplete penetrance and variable expressivity.”
§ The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review > 3. Conclusions
Load-bearingStrength:plain· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✓ Based: passesIt may state two separate claims as one.
In the paper
“Valente et al. [11] also reported in Angelman syndrome that those with the 15q11–q13 type I deletion had more severe seizures and were refractory to treatment compared with those having the type II deletion.”
§ The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review > 1. Introduction
What the sources say
- Not checked — no full text of the sourcecites [11] Valente, 2013, Angelman syndrome caused by deletion: A genotype-phenotype correlation determined by breakpoint, Epilepsy Res. source
Strength:plain· not yet calibratedCausal:correlational· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes✗ Load-bearing: fails✓ Based: passesProbably not a substantial claim. The paper’s conclusions may not depend on it.
In the paper
“They found that 87.5% of the patients with the deletion had developmental delay or intellectual disability.”
§ The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review > 1. Introduction
What the sources say
- Not checked — no full text of the sourcecites [17] Abdelmoity, 2012, 15q11.2 proximal imbalances associated with a diverse array of neuropsychiatric disorders and mild dysmorphic features, J. Dev. Behav. Pediatr. source
Strength:plain· not yet calibratedCausal:correlational· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes✗ Load-bearing: fails✓ Based: passesProbably not a substantial claim. The paper’s conclusions may not depend on it.
A conclusion the paper draws from its own results — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“Therefore, this region contains genetic material showing incomplete penetrance or low penetrance of pathogenicity along with variable expressivity.”
§ The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review > 1. Introduction
Tests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✓ Based: passesIt may state two separate claims as one.
In the paper
“More recently, Cafferkey et al. [18] presented data from 14,605 patients (primarily pediatric) referred for genetic testing using microarray analysis and found 83 (0.57%) with the 15q11.2 BP1–BP2 microdeletion.”
§ The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review > 1. Introduction
What the sources say
- Not checked — no full text of the sourcecites [18] Cafferkey, 2013, Phenotypic features in patients with 15q11.2 (BP1–BP2) deletion: Further delineation of an emerging syndrome, Am. J. Med. Genet. Part A source
Strength:plain· not yet calibratedn = 14,605Tests✓ Asserted: passes✓ Checkable: passes✗ Load-bearing: fails✓ Based: passesProbably not a substantial claim. The paper’s conclusions may not depend on it.
In the paper
“Stefansson et al. [38] found a modest effect on verbal IQ (effect = 0.38, p = 0.033) and performance IQ (effect = 0.43, p = 0.018) from the 15q11.2 deletion.”
§ The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review > 2. Results and Discussion > 2.3 Intelligence and Academic Achievement
What the sources say
- Not checked — no full text of the sourcecites [38] Stefansson, 2014, CNVs conferring risk of autism or schizophrenia affect cognition in controls, Nature source
Strength:plain· not yet calibratedCausal:direct· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes? Load-bearing: unclear✓ Based: passesIt may state two separate claims as one.
In the paper
“Later, Abdelmoity et al. [17] reported a cohort of 1654 consecutive pediatric patients presenting with a range of neurological disorders and found that 21% or 1.27% of the patients carried a 15q11.2 BP1–BP2 deletion.”
§ The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review > 1. Introduction
What the sources say
- Not checked — no full text of the sourcecites [17] Abdelmoity, 2012, 15q11.2 proximal imbalances associated with a diverse array of neuropsychiatric disorders and mild dysmorphic features, J. Dev. Behav. Pediatr. source
Strength:plain· not yet calibratedn = 1,654Tests✓ Asserted: passes✓ Checkable: passes✗ Load-bearing: fails✓ Based: passesProbably not a substantial claim. The paper’s conclusions may not depend on it. It may state two separate claims as one.
The paper relies on this without support.
The clinical features reported in the literature for individuals with the 15q11.2 BP1–BP2 microdeletion are attributable to the deletion rather than to other genetic or environmental factors.
“Not all individuals with the deletion are clinically affected, yet the collection of findings appear to share biological pathways and presumed genetic mechanisms.”
The paper relies on this without support.
The individuals in the reviewed studies are representative of the broader population with the 15q11.2 BP1–BP2 microdeletion.
“Review of clinical features from about 200 individuals were grouped into five categories”
The paper relies on this without support.
The control cohorts used to estimate prevalence are comparable to the patient cohorts.
“which is a two to four fold increase compared with controls.”
The authors state this as an assumption.
The four genes in the BP1–BP2 region are the relevant genes for the neurobehavioral phenotype.
“the collection of findings appear to share biological pathways and presumed genetic mechanisms.”
The paper relies on this without support.
The literature review captures all relevant published cases.
“A review of the literature on growth and development in individuals with 15q11.2 BP1–BP2 microdeletions”
The paper relies on this without support.
The individuals reported in the reviewed literature are representative of the broader population with the 15q11.2 BP1–BP2 microdeletion.
“From reported patient cohorts presenting for genetic services and microarray analysis, this microdeletion syndrome can now be recognized as the most common cytogenetic abnormality found in autism spectrum disorder.”
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
The source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“Deletion of 15q11.2(BP1–BP2) leads to a two to fourfold increase in the risk for schizophrenia, autism and intellectual disability [1–5].”
From Linking haploinsufficiency of the autism- and schizophrenia-associated gene Cyfip1 with striatal-limbic-cortical network dysfunction and cognitive inflexibility (2024) · cites this paper as [3]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“More than 200 15q11.2 deletion carriers have been reported in clinical series with mild, moderate and severe neurodevelopmental symptoms as well as malformations leading authors to delineate a microdeletion syndrome with considerable phenotypic variability9 and incomplete penetrance.10”
From Estimating the effect size of the 15Q11.2 BP1–BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice (2019) · cites this paper as [9]
Experimental — accuracy not yet measured
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
Palatal-abnormality percentage is doubled
MajorThe reported 9 cases among 39 individuals correspond to about 23%, not 46%. The 46% figure is also repeated in the abstract and discussion.
Reported 46 · recomputed 23.076923
“| Palatal abnormalities | 4/9 | 0/7 | N/A | 2/16 | 2/2 | 1/2 | N/A | 0/2 | N/A | 0/1 | 9/39 (46) |”
Patient prevalence is stated as 21% instead of 1.27%
MajorThe stated 21 patients among 1,654 correspond to 1.27%, not 21%. The sentence gives both incompatible percentages.
Reported 21 · recomputed 1.269649
“21% or 1.27% of the patients carried a 15q11.2 BP1–BP2 deletion”
Seizure counts sum to 50, not 57
MajorThe study numerators in the seizures/epilepsy row total 50, not the reported 57. With the reported denominator of 216, that would also change the stated 26% incidence to about 23%.
Reported 57 · recomputed 50
“| Seizures/epilepsy | 0/2 | 2/8 | 8/23 | 0/7 | 14/56 | 2/16 | 0/2 | 0/2 | 6/6 | 13/83 | 4/5 | 1/2 | 0/3 | 0/1 | 57/216 (26) |”
Dysmorphic-ear percentage does not match its count
MajorThe reported 9/39 is about 23%, not 46%. Moreover, the study counts in the row add to 10 rather than 9.
Reported 46 · recomputed 23.076923
“| Dysmorphic ears | 6/9 | 0/7 | N/A | 1/16 | 2/2 | 0/2 | N/A | 0/2 | N/A | 1/1 | 9/39 (46) |”
Tracheoesophageal-fistula denominator does not add up
MinorThe non-N/A study denominators total 46, not the reported 49.
Reported 49 · recomputed 46
“| TE fistula | 0/1 | 0/9 | N/A | 0/7 | N/A | 0/16 | 0/2 | 1/2 | N/A | N/A | 0/3 | 0/2 | 0/3 | 0/1 | 1/49 (2) |”
Genital-abnormality denominator does not add up
MinorThe non-N/A study denominators total 43, not the reported 46.
Reported 46 · recomputed 43
“| Genital abnormalities | 0/1 | 2/9 | N/A | 1/7 | N/A | 0/16 | 0/2 | 0/2 | N/A | N/A | 0/3 | 0/2 | N/A | 0/1 | 3/46 (7) |”
Recurrent-infection denominator does not add up
MinorThe non-N/A study denominators total 27, not the reported 30.
Reported 30 · recomputed 27
“| Recurrent infections | 0/1 | 2/9 | N/A | 0/7 | N/A | N/A | 0/2 | 0/2 | N/A | N/A | 0/3 | 0/2 | N/A | 0/1 | 2/30 (7) |”
Hearing-loss denominator does not add up
MinorThe non-N/A study denominators total 46, not the reported 49.
Reported 49 · recomputed 46
“| Hearing loss/impairment | 0/1 | 1/9 | N/A | 0/7 | N/A | 1/16 | 0/2 | 0/2 | N/A | N/A | 0/3 | 0/2 | 0/3 | 0/1 | 2/49 (4) |”
Omphalocele denominator does not add up
MinorThe non-N/A study denominators total 46, not the reported 49.
Reported 49 · recomputed 46
“| Omphalocele | 0/1 | 1/9 | N/A | 0/7 | N/A | 0/16 | 0/2 | 0/2 | N/A | N/A | 0/3 | 0/2 | 0/3 | 0/1 | 1/49 (2) |”
Citations
Cites
Burnside, R. D. (2015) · Cytogenetic and Genome Research · doi:10.1159/000438708 · Cited by 1,964
Large recurrent microdeletions associated with schizophrenia.
GROUP, Stefansson, H., Rujescu, D., Cichon, S., Pietiläinen, O. P. H., Ingason, A., Steinberg, S., Fossdal, R., Sigurdsson, E., Sigmundsson, T., et al. (2008) · Nature · doi:10.1038/nature07229 · Cited by 1,745 · cited 1×
“2 BP1–BP2 microdeletion [18,27–31].”
A copy number variation morbidity map of developmental delay
Cooper, G. M., Coe, B. P., Girirajan, S., Rosenfeld, J. A., Vu, T. H., Baker, C., Williams, C., Stalker, H., Hamid, R., Hannig, V., et al. (2011) · Nature Genetics · doi:10.1038/ng.909 · Cited by 1,351
CNVs conferring risk of autism or schizophrenia affect cognition in controls
Stefansson, H., Meyer-Lindenberg, A., Steinberg, S., Magnusdottir, B., Morgen, K., Arnarsdottir, S., Bjornsdottir, G., Walters, G. B., Jonsdottir, G. A., Doyle, O. M., et al. (2014) · Nature · doi:10.1038/nature12818 · Cited by 699 · cited 1×
“[38] found a modest effect on verbal IQ (effect = 0.”
BackgroundA recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay
Girirajan, S., Rosenfeld, J. A., Cooper, G. M., Antonacci, F., Siswara, P., Itsara, A., Vives, L., Walsh, T., McCarthy, S. E., Baker, C., et al. (2010) · Nature Genetics · doi:10.1038/ng.534 · Cited by 667 · cited 1×
“2 BP1–BP2 microdeletion or members of control cohorts [44].”
BackgroundPopulation analysis of large copy number variants and hotspots of human genetic disease
Itsara, A., Cooper, G. M., Baker, C., Girirajan, S., Li, J., Absher, D., Krauss, R. M., Myers, R. M., Ridker, P. M., Chasman, D. I., et al. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.12.014 · Cited by 591 · cited 1×
“2 BP1–BP2 microdeletion [18,27–31].”
Fragile X Syndrome: Diagnosis, Treatment, And Research
Silverman, & Cronister, A. (1991) · Johns Hopkins University Press eBooks · Cited by 481
Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies
de Kovel, C. G. F., Trucks, H., Helbig, I., Mefford, H. C., Baker, C., Leu, C., Kluck, C., Muhle, H., von Spiczak, S., Ostertag, P., et al. (2010) · Brain · doi:10.1093/brain/awp262 · Cited by 445 · cited 3×
“2 BP1–BP2 microdeletion [18,27–31].”
BackgroundAnalysis of copy number variations at 15 schizophrenia-associated loci
Rees, E., Walters, J. T. R., Georgieva, L., Isles, A. R., Chambert, K. D., Richards, A. L., Mahoney-Davies, G., Legge, S. E., Moran, J. L., McCarroll, S. A., et al. (2014) · British Journal of Psychiatry · doi:10.1192/bjp.bp.113.131052 · Cited by 443
Estimates of penetrance for recurrent pathogenic copy-number variations
Rosenfeld, J. A., Coe, B. P., Eichler, E. E., Cuckle, H., & Shaffer, L. G. (2013) · Genetics in Medicine · doi:10.1038/gim.2012.164 · Cited by 425
Flagged first, then by citations
1 of the 48 references couldn’t be matched to a known paper.
Cited by
Sorted by citations
Items 101–200 of 243
SRD5A3-CDG: Twins with an intragenic tandem duplication
Rieger, M., Türk, M., Kraus, C. S., Uebe, S., Ekici, A. B., Krumbiegel, M., Huchzermeyer, C. R., Reis, A., & Thiel, C. T. (2022) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2022.104492 · Cited by 9
Thomas‐Wilson, A., Schacht, J. P., Chitayat, D. A., et al. (2023) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.63203 · Cited by 9
“2 microdeletion syndrome (Cox & Butler, 2015).”
Jiang, X.-L., Liang, B., Zhao, W., Lin, N., Huang, H., Cai, M., & Xu, L. (2023) · The Journal of Maternal-Fetal & Neonatal Medicine · doi:10.1080/14767058.2023.2262700 · Cited by 9
Neurodevelopmental impact of CNV models in ASD: Recent advances and future directions
Tamada, K., & Takumi, T. (2025) · Current Opinion in Neurobiology · doi:10.1016/j.conb.2025.103001 · Cited by 10
“2 BP (breakpoint) 1 e BP2 microdeletion syndrome presents with a broad phenotypic range that includes developmental delay, language delay, neuro-behavioral disorders, and psychiatric problems, including ASD and SCZ [32].”
Venkataswamy, C., Gurusamy, U., & Lakshmi, S. (2018) · Journal of Laboratory Physicians · doi:10.4103/jlp.jlp_134_17 · Cited by 9
Moreno, O. M., Sánchez, A. I., Herreño, A. M., Giraldo, G. A., Suárez‐Obando, F., Prieto, J. C., Clavijo, A. S., Olaya, M., Vaca, Y. A. V., Benitez, J. J., et al. (2020) · Molecular Syndromology · doi:10.1159/000510910 · Cited by 10
Luo, H., Wang, Q., Fu, D., Gao, J. Y., & Lü, D. (2023) · Journal of obstetrics and gynaecology research · doi:10.1111/jog.15652 · Cited by 12
Rare copy number variants in ASTN2 gene in patients with neurodevelopmental disorders
Bauleo, A., Montesanto, A., Pace, V., Brando, R., Stefano, L. D., Puntorieri, D., Cento, L., Loddo, S., Calacci, C., Novelli, A., et al. (2021) · Psychiatric Genetics · doi:10.1097/ypg.0000000000000296 · Cited by 10
“The presence of these CNVs in an unaffected parent underlines the incomplete penetrance or variable expressivity of these variants (Shinawi et al., 2010; Cox and Butler, 2015).”
BackgroundMa, R., Kim, U. S., Chung, Y., Kang, H. R., Zhang, Y., & Han, K. (2024) · Brain and Development · doi:10.1016/j.braindev.2024.104302 · Cited by 8
Low-Density Neuronal Cultures from Human Induced Pluripotent Stem Cells
Dimitrion, P. M., Zhi, Y., Clayton, D. R., Apodaca, G. L., Wilcox, M. R., Johnson, J. W., Nimgaonkar, V. L., & D’Aiuto, L. (2017) · Complex Psychiatry · doi:10.1159/000476034 · Cited by 8
Capkova, Z., Čapková, P., Srovnal, J., Adamová, K., Procházka, M., & Hajdúch, M. (2021) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.1592 · Cited by 8
“2 duplication (p = 0.03; Table 3, Figure 6; Niarchou et al., 2019; Vanzo et al., 2019; Cox & Butler, 2015; Burnside et al., 2011).”
BackgroundInfluentialTomaskovic‐Crook, E., Guerrieri-Cortesi, K., & Crook, J. M. (2021) · Brain Research Bulletin · doi:10.1016/j.brainresbull.2021.07.004 · Cited by 8
Prader–Willi syndrome, deletion subtypes, and magnesium: Potential impact on clinical findings
Butler, M. G., Cowen, N. M., & Bhatnagar, A. (2022) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.62928 · Cited by 8
“2 BP1–BP2 deletion (Burnside–Butler) syndrome reported in the literature were reviewed and grouped into five categories by Cox and Butler (2015) and Butler (2017b): developmental (73% of cases), speech (67%), and motor delay problems (42%); dysmorphic ears (46”
BackgroundSelf-citationCopy number variation in genetic epilepsy with febrile seizures plus
Fortin, O., Vincelette, C., Chénier, S., Ghais, A., Shevell, M. I., Simard‐Tremblay, E., & Myers, K. A. (2020) · European Journal of Paediatric Neurology · doi:10.1016/j.ejpn.2020.05.005 · Cited by 8
Chromosome Instability Syndromes
Gardner, R. J. M., & Amor, D. J. (2018) · Oxford University Press eBooks · doi:10.1093/med/9780199329007.003.0016 · Cited by 9
Clinical features and magnesium levels: Novel insights in 15q11.2 BP1–BP2 copy number variants
Meossi, C., Carrer, A., Ciaccio, C., Estienne, M., Silipigni, R., Sciacca, F. L., Pantaleoni, C., D’Arrigo, S., & Milani, D. (2023) · Journal of Intellectual Disability Research · doi:10.1111/jir.13038 · Cited by 9
Haddon, J. E., Titherage, D., Heckenast, J. R., Carter, J., Owen, M. J., Hall, J., Wilkinson, L. S., & Jones, M. W. (2024) · Translational Psychiatry · doi:10.1038/s41398-024-02969-x · Cited by 6
Maternal 15q Duplication Syndrome
Lusk, L. G., Vogel‐Farley, V. K., DiStefano, C., & Jeste, S. (2021) · Cited by 6
Improving CNV Detection Performance in Microarray Data Using a Machine Learning-Based Approach
Goh, C. J., Kwon, H., Kim, Y., Jung, S., Park, J., Lee, I. K., Park, B.-R., Kim, M.-J., Kim, M., & Lee, M.-S. (2023) · Diagnostics · doi:10.3390/diagnostics14010084 · Cited by 6
Prenatal diagnosis and pregnancy outcomes in fetuses with ventriculomegaly
Yue, F., Yang, X., Liu, N., Liu, R., & Zhang, H. (2024) · Frontiers in Medicine · doi:10.3389/fmed.2024.1349171 · Cited by 6
“The carriers could present developmental and language delay, neurobehavioral disturbances and psychiatric problems in clinic (34).”
BackgroundCopy number variations in autistic children
Alhazmi, S., Alharthi, M., Alzahrani, M., Alrofaidi, A., Basingab, F. S., Almuhammadi, A., Alkhatabi, H. A., Ashi, A., Chaudhary, A., & Elaimi, A. (2024) · Biomedical Reports · doi:10.3892/br.2024.1795 · Cited by 7
“2 is one of the most commonly identified CNVs recur‑ rently associated with autism (88).”
BackgroundKılıçaslan, F., Öz, Ö., & Mutlu, M. B. (2024) · International Journal of Developmental Neuroscience · doi:10.1002/jdn.10397 · Cited by 7
A Review of Prader–Willi Syndrome
Szabadi, S., Sila, Z., Dewey, J., Rowland, D., Penugonda, M., & Ergun-Longmire, B. (2022) · Endocrines · doi:10.3390/endocrines3020027 · Cited by 7
Rare copy number variation in posttraumatic stress disorder
Maihofer, A. X., Engchuan, W., Huguet, G., Klein, M., MacDonald, J. R., Shanta, O., Thiruvahindrapuram, B., Jean‐Louis, M., Saci, Z., Jacquemont, S., et al. (2022) · Molecular Psychiatry · doi:10.1038/s41380-022-01776-4 · Cited by 6
Bøen, R., Kaufmann, T., van der Meer, D., Frei, O., Agartz, I., Ames, D. J., Andersson, M., Armstrong, N. J., Artiges, É., Atkins, J., et al. (2023) · Biological Psychiatry · doi:10.1016/j.biopsych.2023.08.018 · Cited by 6
“2 BP1-BP2 deletion carriers 35 .”
A report on seven fetal cases associated with 15q11‐q13 microdeletion and microduplication
Huang, X., Chen, J., Hu, W., Li, L., He, H., Guo, H., Liao, Q., Ye, M., Tang, D., & Dai, Y. (2021) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.1605 · Cited by 6
“15q11- q13 is prone to copy number variation caused by low copy repeats (LCRs), which are considered to increase the risk of chromosome rearrangement through nonallelic homologous recombination (Cox & Butler, 2015).”
BackgroundMathew, M. T., Antoniou, A. A., Ramesh, N., Hu, M., Gaither, J., Mouhlas, D., Hashimoto, S., Humphrey, M., Matthews, T., Hunter, J. M., et al. (2022) · Journal of Molecular Diagnostics · doi:10.1016/j.jmoldx.2022.06.001 · Cited by 6
Han, J. Y., & Park, J. (2021) · Diagnostics · doi:10.3390/diagnostics11040722 · Cited by 5
“2 deletion carriers have been described in clinical cases with mild, moderate, and severe neurodevelopmental manifestations as well as impairments, causing physicians to delineate a microdeletion syndrome with considerable variable expressivity [8] and incomplete penetrance [9].”
BackgroundInfluentialAutism: a transdiagnostic, dimensional, construct of reasoning?
Aggernæs, B. (2017) · European Journal of Neuroscience · doi:10.1111/ejn.13599 · Cited by 7
Saia, F., Prato, A., Saccuzzo, L., Madia, F., Barone, R. M. E., Fichera, M., & Rizzo, R. (2023) · Genes · doi:10.3390/genes14020500 · Cited by 5
Cai, M., Lv, A., Zhao, W., Xu, L., Lin, N., & Huang, H. (2024) · BMC Pregnancy and Childbirth · doi:10.1186/s12884-023-06223-y · Cited by 7
“Most CNV are inherited from phenotypic parents, particularly from the paternal line [2, 7, 31].”
BackgroundHabela, C. W., Liu, S., Taga, A., Oddoye, S., Dastgheyb, R. M., Haughey, N. J., Bergles, D. E., Song, H., Ming, G., & Maragakis, N. J. (2025) · Translational Psychiatry · doi:10.1038/s41398-025-03453-w · Cited by 4
“2 region in humans is implicated in both neurodevelopmental and neuropsychiatric disorders [5 – 9].”
Wright, D. C., Carey, L., Battersby, S., Nguyen, T. B., Clarke, M., Nash, B. M., Gulesserian, E., Cross, J., & Darmanian, A. (2016) · Genetic Testing and Molecular Biomarkers · doi:10.1089/gtmb.2016.0117 · Cited by 5
“2 microdeletion is (Cox and Butler, 2015), whereas others suggest that the association is due to ascertainment bias (Hashemi et al. , 2015).”
The Genetic and Epigenetic Basis Involved in the Pathophysiology of ASD: Therapeutic Implications
Carrascosa-Romero, M. C., & de Cabo, C. (2017) · InTech eBooks · doi:10.5772/66854 · Cited by 5
“The BP1‐BP2 region include four genes (TUBGCP5, CYFIP1, NIPA1, and NIPA2) which are not subject to imprinting (a differential expression depending on maternal or paternal origin gene) and therefore with expression biallelicis [40].”
BackgroundSubmicroscopic aberrations of chromosome 16 in prenatal diagnosis
Wu, X., Xu, L., Li, Y., Lin, N., Su, L., Cai, M., Xie, X., Zheng, L., Huang, H., & Lin, Y. (2019) · Molecular Cytogenetics · doi:10.1186/s13039-019-0448-y · Cited by 5
Manheimer, K. B., Patel, N., Richter, F., Gorham, J., Tai, A. C., Homsy, J. G., Boskovski, M. T., Parfenov, M. G., Goldmuntz, E., Chung, W. K., et al. (2018) · Human Mutation · doi:10.1002/humu.23419 · Cited by 5
“2 deletions are associated with a wide range of phenotypic anomalies, CHD have been reported in ~9% of carriers (Cox and Butler, 2015), which explains the presence of an inherited mutation present in both a proband with CHD and their apparently unaffected parent.”
BackgroundCasamassa, A., Ferrari, D., Gelati, M., Carella, M., Vescovi, A. L., & Rosati, J. D. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21051860 · Cited by 5
“2, significantly associated with schizophrenia and related psychoses [69,70].”
BackgroundIdentification of novel driver risk genes in CNV loci associated with neurodevelopmental disorders
Azidane, S., Gallego, X., Durham, L., Cáceres, M., Güney, E., & Pérez‐Cano, L. (2024) · Human Genetics and Genomics Advances · doi:10.1016/j.xhgg.2024.100316 · Cited by 5
“3, or 39–41 This fact also highlights shared etiologies among these heterogeneous groups of disorders and supports the rationale of grouping affected individuals with NDDs for variant and gene association analysis as done in the current study.”
Genetic analysis and prenatal diagnosis of 15q11-q13 microduplication syndrome
Ma, Y., Ru, Y., Yan, X., Song, X., & Zhan, F. (2025) · The Journal of Maternal-Fetal & Neonatal Medicine · doi:10.1080/14767058.2025.2505752 · Cited by 5
“The 15q11-q13 region is particularly susceptible to copy number variations (CNVs) owing to the presence of low copy repeats, which can increase the risk of chromosomal rearrangements through non-allelic homologous recombination [3].”
Rammos, A., Blakey, R., Dennison, C. A., Lewis, S. J., Ali, N. M. H., Davies, A., Wren, Y. E., Humphries, K., Sandy, J. R., Rees, E., et al. (2025) · Human Molecular Genetics · doi:10.1093/hmg/ddaf115 · Cited by 5
“Communication and language are also commonly dela yed across 15q.11.2 [44] and 22q.11.2 [26] deletion syndr omes.”
InfluentialJagannath, V., Grünblatt, E., Theodoridou, A., Oneda, B., Roth, A. C., Gerstenberg, M., Franscini, M., Traber‐Walker, N., Correll, C. U., Heekeren, K., et al. (2019) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32770 · Cited by 4
“2 loci (breakpoint BP1-BP2 region) have been associated with schizophrenia, ASD, developmental delay (DD), seizures/epilepsy, ADHD, dyslexia, and dyscalculia (Butler, 2017; Cox & Butler, 2015; Marshall et al., 2017; Ulfarsson et al., 2017; Zhao et al., 2013).”
BackgroundImpact of copy number variants in epilepsy plus neurodevelopment disorders
João, S., Quental, R., Pinto, J., Almeida, C., Santos, H., & Dória, S. (2024) · Seizure · doi:10.1016/j.seizure.2024.01.009 · Cited by 4
“2 BP1-BP2 region [46].”
Kushima, I., Nakatochi, M., & Ozaki, N. (2024) · Biological Psychiatry · doi:10.1016/j.biopsych.2024.11.019 · Cited by 6
Liu, Y., Yuan, P., Liang, Z. L., & Pan, Q. (2025) · Scientific Reports · doi:10.1038/s41598-025-86487-w · Cited by 5
Prader-Willi syndrome: Genetics, clinical symptoms, and model systems
Saade, M., Rike, W. A., Sharma, O., Abu-Akel, A. M., & Stern, S. (2025) · Genomic psychiatry : · doi:10.61373/gp025i.0044 · Cited by 3
A Rare Case of 15q11.2 Microdeletion Syndrome with Atypical Features: Diagnostic Dilemma
Chowdhury, W., Patak, P., Chowdhury, F. J., Ijaz, H. M., Zafar, T., Chatla, N., & Khiami, A. (2018) · Cureus · doi:10.7759/cureus.3543 · Cited by 4
“The authors strongly suggested using CMA over G-type karyotyping for unexplained developmental or intellectual disabilities, autism spectrum disorders, or multiple congenital anomalies.”
BackgroundInfluentialTang, W., Chen, G., Xia, J., et al. (2022) · Molecular Cytogenetics · doi:10.1186/s13039-022-00605-1 · Cited by 4
Gardner, R. J. M., & Amor, D. J. (2018) · Oxford University Press eBooks · doi:10.1093/med/9780199329007.003.0011 · Cited by 4
Genetic mechanisms of neurodevelopmental disorders
Au, P. Y. B., Eaton, A. J., & Dyment, D. A. (2020) · Handbook of clinical neurology · doi:10.1016/b978-0-444-64150-2.00024-1 · Cited by 5
Brownstein, C. A., Douard, E. A., Haynes, R. L., Koh, H. Y., Haghighi, A., Keywan, C., Martin, B. E., Alexandrescu, S., Haas, E. A., Vargas, S. O., et al. (2022) · Advanced Genetics · doi:10.1002/ggn2.202200012 · Cited by 4
Butler, M. G. (2022) · Springer eBooks · doi:10.1007/978-3-030-88832-9_88 · Cited by 4
Self-citationCongenital heart disease presentations in the 15q11.2 microdeletion syndrome
Fifirig, C.-I., Abraham, S., Keavney, B. D., & Hentges, K. E. (2025) · Frontiers in Genetics · doi:10.3389/fgene.2025.1535732 · Cited by 3
Han, J. Y., Gwack, J., Kim, J. H., Park, M. K., & Park, J. (2025) · International Journal of Molecular Sciences · doi:10.3390/ijms26072929 · Cited by 3
“2 microdeletion syndrome, a rare partial autosomal monosomy, is characterized by variable phenotypic expression and reduced penetrance [22].”
Clinical Genetic Testing in Schizophrenia: A Systematic Review and Meta-Analysis
Brah, H. S., Sran, N., Sanghani, S., Valmadrid, L. C., Gandarilla, I., Fakhouri, S. K., Longmire, E. L., Heskett, K. M., Kendall, K. M., Raznahan, A., et al. (2025) · Biological Psychiatry · doi:10.1016/j.biopsych.2025.09.010 · Cited by 4
Chen, L. L., Naesström, M., Halvorsen, M., Fytagoridis, A., Crowley, S. B., Mataix‐Cols, D., Rück, C., Crowley, J. J., & Djurfeldt, D. R. (2024) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32983 · Cited by 3
“2 deletion carriers in the literature [50, 51].”
Pascual‐Morena, C., Martínez-Vizcaíno, V., Cavero‐Redondo, I., Álvarez-Bueno, C., Martínez‐García, I., Rodríguez‐Gutiérrez, E., Otero-Luis, I., del Saz‐Lara, A., & Saz‐Lara, A. (2024) · Epilepsy & Behavior · doi:10.1016/j.yebeh.2024.109803 · Cited by 3
Assessing the necessity of screening ≤5 Mb segmental aneuploidy in routine PGT for aneuploidies
Zhang, J., Qin, M. H., Ma, M., Li, H., Wang, N., Zhu, X., Yan, L., Qiao, J., & Yan, Z. (2024) · Reproductive BioMedicine Online · doi:10.1016/j.rbmo.2024.103991 · Cited by 3
Chromosome Abnormalities Detected at Prenatal Diagnosis
Gardner, R. J. M., & Amor, D. J. (2018) · Oxford University Press eBooks · doi:10.1093/med/9780199329007.003.0021 · Cited by 3
MLPA analysis in a cohort of patients with autism
Peixoto, S., Melo, J. B., Ferrão, J., Pires, L. M., Lavoura, N., Pinto, M., Oliveira, G., & Carreira, I. M. (2017) · Molecular Cytogenetics · doi:10.1186/s13039-017-0302-z · Cited by 3
“Cases like this had been described repeatedly with significant phenotypic variability [39, 45].”
The Origins and Consequences of Chromosome Pathology
Gardner, R. J. M., & Amor, D. J. (2018) · Oxford University Press eBooks · doi:10.1093/med/9780199329007.003.0003 · Cited by 3
Elements of Medical Cytogenetics
Gardner, R. J. M., & Amor, D. J. (2018) · Oxford University Press eBooks · doi:10.1093/med/9780199329007.003.0001 · Cited by 3
Scott-Solache, J., Pei, J., Drew, J., López-Doménech, G., Jolivet, R. B., Nieto-Rostro, M., Davenport, E. C., Arancibia-Cárcamo, I. L., Attwell, D., & Kittler, J. T. (2026) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2532488123 · Cited by 2
“2 region of chromosome 15 that is vulnerable to microdeletions and duplications which are correlated with changes in protein expression (15–20).”
Zhuang, J., Zhang, N., Fu, W., Jiang, Y., Chen, Y., & Chen, C. (2024) · Molecular Cytogenetics · doi:10.1186/s13039-024-00690-4 · Cited by 4
“2 BP1-BP2 microdeletion encompasses the ~ 500 kb region, located between breakpoints BP1 and BP2, containing four OMIM genes including NIPA1 , NIPA2 , CYFIP1 and TUBGCP5 [5–7].”
BackgroundLuo, L., Chen, C., Cheung, C. K. Y., Li, Y. H., Dai, X., Zeng, T., & Wang, Y. (2026) · Diagnostics · doi:10.3390/diagnostics16020312 · Cited by 2
Gardner, R. J. M., & Amor, D. J. (2018) · Oxford University Press eBooks · doi:10.1093/med/9780199329007.003.0009 · Cited by 2
Sullivan, M., Gupta, M. J., Taylor, K. A., Mater, H. A. V., & Pizoli, C. E. (2023) · Journal of Child Neurology · doi:10.1177/08830738231220278 · Cited by 2
“31,38 Studies of cytokine/chemokine levels in CSWS showed differences from controls that returned toward normal after immunotherapy, correlating to improved EEG and behavior, 39 but patients treated successfully with antiseizure medications were not included, limiting interpretation of this result.”
BackgroundHusen, S. C., Visser, E. F., Srebniak, M. I., Diderich, K. E. M., Groenenberg, I. A. L., Steegers‐Theunissen, R. P. M., & Go, A. T. J. I. (2024) · European Journal of Obstetrics & Gynecology and Reproductive Biology · doi:10.1016/j.ejogrb.2024.01.010 · Cited by 2
Das, S., Shet, V., Palakodeti, S., Pokhrel, P., Ansari, M. I., Qutaish, O., Rao, M. G., & Ravilla, S. (2024) · SAGE Open Medical Case Reports · doi:10.1177/2050313x241229058 · Cited by 2
“2 BP1-BP2 region, as observed in individuals with BBS.”
BackgroundInfluentialThe yield of SNP microarray analysis for fetal ultrasound cardiac abnormalities
Ye, F., Xu, X., Wang, Y., Chen, L., Shan, Q., Wang, Q., & Jin, F. (2024) · BMC Pregnancy and Childbirth · doi:10.1186/s12884-024-06428-9 · Cited by 3
“Its prevalence in CMA-tested populations is approximately 0.57-1.27% [24].”
BackgroundInfluentialDecoding Hearts: Genetic Insights and Clinical Strategies in Congenital Heart Disease
Stark, C. M., Hughes, B. N., Schacht, J. P., & Urbina, T. M. (2025) · NeoReviews · doi:10.1542/neo.26-2-010 · Cited by 3
Human acrocentric chromosome short-arm de novo mutation and recombination
Lin, J., Mastrorosa, F. K., Noyes, M. D., Yoo, D., Rhie, A., Porubskỳ, D., Hoekzema, K., Munson, K. M., Koundinya, N., Watkins, W. S., et al. (2026) · Cell · doi:10.1016/j.cell.2026.05.035 · Cited by 3
Rethinking the Concept of Psychosis and the Link Between Autism and Schizophrenia
Aggernæs, B. (2015) · Scandinavian Journal of Child and Adolescent Psychiatry and Psychology · doi:10.21307/sjcapp-2016-002 · Cited by 2
“Consistent with this hypothesis is that fact that increasing evidence suggests that schizophrenia shares common genes with autism and attentiondeficit/hyperactivity disorder (26-34).”
BackgroundIs 15q11.2 microdeletion associated with periventricular nodular heterotopia?
Radley, J. A., & Vasudevan, P. C. (2015) · Clinical Dysmorphology · doi:10.1097/mcd.0000000000000095 · Cited by 2
“This region is ∼ 500 kb in size (Cox and Butler, 2015) and forms part of the larger 15q11.”
BackgroundInfluentialGardner, R. J. M., & Amor, D. J. (2018) · Oxford University Press eBooks · doi:10.1093/med/9780199329007.003.0006 · Cited by 2
Niida, Y., Sato, H., Ozaki, M., et al. (2016) · Cytogenetic and Genome Research · doi:10.1159/000450847 · Cited by 2
“, 2014] and seem to be a risk factor for mental retardation, autism, attention-deficit hyperactivity disorder, learning disorder, epilepsy, and minor dysmorphic features, but no consistant form was detected [Cox and Butler, 2015; Vanlerberghe et al., 2015].”
BackgroundEpilepsy in hereditary spastic paraplegia associated with NIPA1 gene
Boysen, S., Elumalai, V., ElSheikh, R. H., et al. (2022) · Journal of Clinical Neuroscience · doi:10.1016/j.jocn.2022.02.013 · Cited by 2
Haan, N., Westacott, L. J., Carter, J., Owen, M. J., Gray, W. P., Hall, J., & Wilkinson, L. S. (2018) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/417832 · Cited by 2
Interloci CNV Interactions in Variability of the Phenotypes of Neurodevelopmental Disorders
Belyaeva, E. O., & Лебедев, И. Н. (2022) · Russian Journal of Genetics · doi:10.1134/s1022795422100027 · Cited by 1
“2 microdeletion with reduced penetrance [81].”
Melik, I., Brackett, D. G., Sanders, S. P., et al. (2024) · Pediatric and Developmental Pathology · doi:10.1177/10935266241304856 · Cited by 1
Santos, W. D. S., de Figueiredo, B. C., Mello, R. G., Antoniuk, S. A., Dória, G. M. S., Carneiro, M. C. B., & Cordeiro, M. L. (2026) · Diagnostics · doi:10.3390/diagnostics16182947 · Cited by 1
“…report, this recurrent CNV is widely regarded in the literature as a low-penetrance susceptibility locus rather than a fully penetrant pathogenic variant, with population-based penetrance estimates around 10% or lower and frequent inheritance from unaffected or mildly affected parents [26,27].”
Sun, M., Yue, F., Yu, Y., Li, L., Jiang, Y., Zhang, H., & Liu, R. (2020) · Medicine · doi:10.1097/md.0000000000022496 · Cited by 1
“4 this region,NIPA1 is highly expressed in neuronal tissue, which is associated with autosomal dominant hereditary spastic paraplegia and mediates Mg transport.([21]) The NIPA2 gene encodes a protein that plays a role in Mg transport in renal cells.”
BackgroundPreimplantation Genetic Diagnosis
Gardner, R. J. M., & Amor, D. J. (2018) · Oxford University Press eBooks · doi:10.1093/med/9780199329007.003.0022 · Cited by 1
Epidemiology of Epilepsy in Persons with Intellectual Disabilities
Brown, S. (2016) · Springer eBooks · doi:10.1007/978-3-319-39144-1_3 · Cited by 1
Wang, W. J., Wang, J., Shi, Y., et al. (2023) · Clinical and Experimental Obstetrics & Gynecology · doi:10.31083/j.ceog5010215 · Cited by 1
Phillips, H. W., Papadakis, J. E., Borden, B. A., et al. (2024) · Journal of Neurosurgery Case Lessons · doi:10.3171/case2452 · Cited by 1
Uniparental Disomy and Disorders of Imprinting
Gardner, R. J. M., & Amor, D. J. (2018) · Oxford University Press eBooks · doi:10.1093/med/9780199329007.003.0018 · Cited by 1
Wyandt, H. E., Wilson, G. N., & Tonk, V. S. (2017) · Springer eBooks · doi:10.1007/978-981-10-3035-2_10 · Cited by 1
Semiological Bridge between Psychiatry and Epilepsy
Gaber, A. (2017) · Journal of Psychology & Clinical Psychiatry · doi:10.15406/jpcpy.2017.08.00467 · Cited by 1
“Autism, seizures, schizophrenia and mild dysmorphic features are less commonly seen [93].”
BackgroundRomaniouk, I., Romero, A., Runza, P., et al. (2017) · Nefrología · doi:10.1016/j.nefro.2017.09.002 · Cited by 1
Sex Chromosome Aneuploidy and Structural Rearrangement
Gardner, R. J. M., & Amor, D. J. (2018) · Oxford University Press eBooks · doi:10.1093/med/9780199329007.003.0015 · Cited by 1
Gardner, R. J. M., & Amor, D. J. (2018) · Oxford University Press eBooks · doi:10.1093/med/9780199329007.003.0007 · Cited by 2
Romaniouk, I., Romero, A., Runza, P., et al. (2018) · Nefrología (English Edition) · doi:10.1016/j.nefroe.2018.05.001 · Cited by 1
Bittel, D. C., & Butler, M. G. (2016) · Elsevier eBooks · doi:10.1016/b978-0-12-809324-5.01982-9 · Cited by 1
Self-citationAbumadini, M. S., Ghamdi, K. S. A., Alqahtani, A. H., Almedallah, D. K., Callans, L. E., Jarad, J. A., Cyrus, C., Koeleman, B. P. C., Keating, B. J., Pankratz, N., et al. (2023) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2023.1069375 · Cited by 1
“2 chr15:22,798,636-23,088,559 Loss Risk 0 19 Cox and Butler (2015)”
INVERTED DUPLICATED CHROMOSOME 15 SYNDROME (ISODICENTRIC 15)
Battaglia, A. (2020) · doi:10.1002/9781119432692.ch33 · Cited by 1
Mapping cerebellar morphology in 15q11.2 CNV carriers using normative modeling
Kim, M., Leonardsen, E. H., Rutherford, S. E., Selbæk, G., Persson, K., Steen, N. E., Smeland, O. B., Richard, G., Alnæs, D., Bøen, R., et al. (2026) · Molecular Psychiatry · doi:10.1101/2025.05.28.25328353 · Cited by 1
Moyer, A. J., Capps, M. E., Conklin, C. L., Bastien, B. L., Martina, V., Gannaway, W. C., Cummings, C. E., Martinez, J. A., Chen, M., Kioschos, G., et al. (2026) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.64898/2026.02.17.706411 · Cited by 1
“2 BP1–BP2 microdeletion syndrome 29,30 , we removed a >130 kilobase region encompassing orthologs of the four recurrently deleted genes ( TUBGCP5 , CYFIP1 , NIPA1 , NIPA2 ), which are syntenic in zebrafish.”
Deriving and Using A Risk Figure
Gardner, R. J. M., & Amor, D. J. (2018) · Oxford University Press eBooks · doi:10.1093/med/9780199329007.003.0004
Gonadal Cytogenetic Damage from Exposure to Extrinsic Agents
Gardner, R. J. M., & Amor, D. J. (2018) · Oxford University Press eBooks · doi:10.1093/med/9780199329007.003.0024
Chromosomal Disorders of Sex Development
Gardner, R. J. M., & Amor, D. J. (2018) · Oxford University Press eBooks · doi:10.1093/med/9780199329007.003.0023
Metadata
- Authors
- Cox, D., & Butler, M.
- Affiliations
- University of Kansas Medical Center (US)
- Venue
- International Journal of Molecular Sciences
- Publisher
- MDPI AG
- Published
- 2015-02-13
- Volume
- 16
- Issue
- 2
- Pages
- 4068-4082
- ISSN
- 1422-0067 (ISSN-L)
- PMC
- PMC4346944
- OpenAlex
- W2036796020
- Cited by
- 243
- References
- 48
- Citations by year
- 2026: 15 · 2025: 17 · 2024: 25 · 2023: 18 · 2022: 18 · 2021: 21 · 2020: 21 · 2019: 18 · 2018: 46 · 2017: 21 · 2016: 13 · 2015: 10
- FWCI
- 18.49
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- International Journal of Molecular Sciences (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (submittedVersion, cc-by)
- PubMed Central (submittedVersion, cc-by)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion)
- KU ScholarWorks (The University of Kansas) (submittedVersion, cc-by)
- Funders
- NICHD (HD02528)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genome Rearrangement Algorithms
- Keywords
- CYFIP1, NIPA1, developmental delay, language delay, dysmorphic features, neuropsychiatric disorders, autism spectrum disorder, schizophrenia, attention deficit hyperactivity disorder, seizures, incomplete penetrance, variable expressivity, genomic imbalances
- MeSH terms
- Autism Spectrum Disorder, Attention Deficit Disorder with Hyperactivity, Chromosome Aberrations, Chromosomes, Human, Pair 15, Epilepsy, Humans, Intellectual Disability, Schizophrenia
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
A language model drew the claims from the paper on 2026-10-27, under version 3 of the claim definition (model deepseek-v4.1-flash, prompt extract-v3).
A second model labelled each claim on 2026-10-27 (model jev-1.13-20260917, definition revision gold-guideline-v0.2).
Cited sources are checked with a language model’s help (gpt-6-sol).
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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