The DOI matches its Crossref record; 28 of the 28 references it cites were found in a registry or an index.
Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: Molecular characterization and genotype-phenotype correlations
Open accessAbstract
Angelman syndrome (AS) is a neurodevelopmental disorder characterized by mental retardation, absent speech, ataxia, and a happy disposition. Deletions of the 15q11q13 region are found in approximately 70% of AS patients. The deletions are sub-classified into class I and class II based on their sizes of approximately 6.8 and approximately 6.0, respectively, with two different proximal breakpoints and a common distal breakpoint. Utilizing a chromosome 15-specific comparative genomic hybridization genomic microarray (array-CGH), we have identified, determined the deletion sizes, and mapped the breakpoints in a cohort of 44 cases, to relate those breakpoints to the genomic architecture and derive more precise genotype-phenotype correlations. Interestingly four patients of the 44 studied (9.1%) had novel and unusually large deletions, and are reported here. This is the first report of very large deletions of 15q11q13 resulting in AS; the largest deletion being >10.6 Mb. These novel deletions involve three different distal breakpoints, two of which have been earlier shown to be involved in the generation of isodicentric 15q chromosomes (idic15). Additionally, precise determination of the deletion breakpoints reveals the presence of directly oriented low-copy repeats (LCRs) flanking the recurrent and novel breakpoints. The LCRs are adequate in size, orientation, and homology to enable abnormal recombination events leading to deletions and duplications. This genomic organization provides evidence for a common mechanism for the generation of both common and rare deletion types. Larger deletions result in a loss of several genes outside the common Angelman syndrome-Prader-Willi syndrome (AS-PWS) critical interval, and a more severe phenotype.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
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
“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].”
From The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review (2015) · cites this paper as [9]
Experimental — accuracy not yet measuredThe cited source says what the claim attributes to it.
In the citing 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.”
From The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review (2015) · cites this paper as [9]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome
Matsuura, T., Sutcliffe, J. S., Fang, P., Galjaard, R. H., Jiang, Y., Benton, C. S., Rommens, J. M., & Beaudet, A. L. (1997) · Nature Genetics · doi:10.1038/ng0197-74 · Cited by 858
Self-citationAutism Diagnostic Observation Schedule
Kim, S. H., & Lord, C. (2017) · Springer eBooks · doi:10.1007/978-3-319-56782-2_1520-2 · Cited by 782
‘Puppet’ Children A Report on Three Cases
Angelman, H. (1965) · Developmental Medicine & Child Neurology · doi:10.1111/j.1469-8749.1965.tb07844.x · Cited by 525
Angelman syndrome: Consensus for diagnostic criteria
Williams, C. A., Angelman, H., Clayton‐Smith, J., Driscoll, D. J., Hendrickson, J. E., Knoll, J. H. M., Magenis, R. E., Schinzel, A., Wagstaff, J. E., Whidden, E. M., et al. (1995) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320560224 · Cited by 359
Structure of Chromosomal Duplicons and their Role in Mediating Human Genomic DisordersPreprint
Ji, Y., Eichler, E. E., Schwartz, S., & Nicholls, R. D. (2000) · Genome Research · doi:10.1101/gr.10.5.597 · Cited by 327
Review of the Bayley Scales of Infant Development—Second edition
Nellis, L. M., & Gridley, B. E. (1994) · Journal of School Psychology · doi:10.1016/0022-4405(94)90011-6 · Cited by 312
3q29 Microdeletion Syndrome: Clinical and Molecular Characterization of a New Syndrome
Willatt, L. R., Cox, J. J., Barber, J. C. K., Cabanas, E. D., Collins, A., Donnai, D., FitzPatrick, D. R., Maher, E., Martin, H., Parnau, J., et al. (2005) · The American Journal of Human Genetics · doi:10.1086/431653 · Cited by 292
Amos-Landgraf, J. M., Ji, Y., Gottlieb, W., Depinet, T. W., Wandstrat, A. E., Cassidy, S. B., Driscoll, D. J., Rogan, P. K., Schwartz, S., & Nicholls, R. D. (1999) · The American Journal of Human Genetics · doi:10.1086/302510 · Cited by 278
Christian, S. L. (1999) · Human Molecular Genetics · doi:10.1093/hmg/8.6.1025 · Cited by 272
Bolton, P. F., Dennis, N. R., Browne, C. E., Thomas, N. S., Veltman, M. W. M., Thompson, R. J., & Jacobs, P. (2001) · American Journal of Medical Genetics · doi:10.1002/ajmg.1551 · Cited by 246
Research works printed but not linked: 3
- Bayley N : Bayley Scales of Infant Development – Second Edition. San Antonio, San Antonio: Psychological Corporation, 1993.
- Sparrow SS, Balla DA, Cicchetti DV : Vineland Adaptive Behavior Scales, Interview Edition: Survey Form Manual. Circle Pines, MN: American Guidance Service, 1984.
- Zimmerman IL, Steiner VG, Pond RE : Preschool Language Scale – Third Edition. San Antonio: Psychological Corporation, 1992.
Cited by
Sorted by citations
Chromosome Abnormalities and Genetic Counseling
Gardner, R. J. M., Sutherland, G. R., & Shaffer, L. G. (2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.001.0001 · Cited by 858
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures.
Sharp, A. J., Mefford, H. C., Li, K., Baker, C., Skinner, C., Stevenson, R. E., Schroer, R. J., Novara, F., De Gregori, M., Ciccone, R., et al. (2008) · Nature Genetics · doi:10.1038/ng.93 · Cited by 582
Angelman syndrome — insights into a rare neurogenetic disorder
Buiting, K., Williams, C. A., & Horsthemke, B. (2016) · Nature Reviews Neurology · doi:10.1038/nrneurol.2016.133 · Cited by 414
van Bon, B. W. M., Mefford, H. C., Menten, B., Koolen, D. A., Sharp, A. J., Nillesen, W. M., Innis, J. W., de Ravel, T. J. L., Mercer, C. L., Fichera, M., et al. (2009) · Journal of Medical Genetics · doi:10.1136/jmg.2008.063412 · Cited by 363
Prader–Willi syndrome and Angelman syndrome
Buiting, K. (2010) · American Journal of Medical Genetics Part C: Seminars in Medical Genetics · doi:10.1002/ajmg.c.30273 · Cited by 336
Metadata
- Authors
- Sahoo, T., Bacino, C. A., German, J. R., Shaw, C. A., Bird, L. M., Kimonis, V., Anselm, I., Waisbren, S., Beaudet, A. L., & Peters, S. U.
- Affiliations
- Baylor College of Medicine (US)
- University of California San Diego (US)
- Harvard University (US)
- Corresponding author
- Bacino, Carlos A
- ORCID
- Venue
- European Journal of Human Genetics
- Published
- 2007-05-23
- Volume
- 15
- Issue
- 9
- Pages
- 943-949
- ISSN
- 1018-4813 (ISSN-L)
- 1476-5438
- OpenAlex
- W1964714903
- Cited by
- 152
- References
- 28
- Citations by year
- 2026: 3 · 2024: 1 · 2023: 3 · 2022: 3 · 2021: 4 · 2020: 7 · 2019: 3 · 2018: 33 · 2017: 4 · 2016: 6 · 2015: 6 · 2014: 8 · 2013: 2 · 2012: 4
- FWCI
- 3.38
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- www.springer.com/tdm (tdm)
- Locations
- European Journal of Human Genetics (publishedVersion)
- PubMed (publishedVersion)
- eScholarship (California Digital Library) (submittedVersion, cc-by)
- Funders
- March of Dimes Foundation
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Syndromes and Imprinting
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- Angelman syndrome, deletion breakpoints, genotype-phenotype correlation, segmental duplication, neurodevelopmental disorders, array comparative genomic hybridization
- MeSH terms
- Child, Preschool, Chromosome Deletion, Chromosomes, Human, Pair 15, Female, Genotype, Humans, Infant, Male, Phenotype, Psychological Tests, Angelman Syndrome, Chromosome Breakage, Oligonucleotide Array Sequence Analysis
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.
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 ›
Are you an author, or do you see a problem with this page? Request a review
