Phenotypic features in patients with 15q11.2(BP1‐BP2) deletion: Further delineation of an emerging syndrome
Abstract
15q11.2 deletions flanked by BP1 and BP2 of the Prader-Willi/Angelman syndrome region have recently been linked to a range of neurodevelopment disorders including intellectual disability, speech and language delay, motor delay, autism spectrum disorders, epilepsy, and schizophrenia. Array CGH analysis of 14,605 patients referred for diagnostic cytogenetic testing found that 83 patients (0.57%) carried the 15q11.2(BP1-BP2) deletion. Phenotypic frequencies in the deleted cohort (n = 83) were compared with frequencies in the non-deleted cohort (n = 14,522); developmental delay, motor delay, and speech and language delay were all more prevalent in the deleted cohort. Notably, motor delay was significantly more common (OR = 6.37). These data indicate that developmental delay, motor delay, and speech and language delay are common clinical features associated with this deletion, providing substantial evidence to support this CNV as a susceptibility locus for a spectrum of neurodevelopmental disorders. © 2014 Wiley Periodicals, Inc.
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About 0.25% of controls (n=66,462) are found with the 15q11.2 BP1-BP2 microdeletion.
“a review of reported data from control cohorts (n = 66,462 subjects) summarized to date show that about 0.25% of controls are found with the 15q11.2 BP1–BP2 microdeletion [18,27,28,29,30,31].”
From The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review (2015) · cites this paper as [18]
The reported de novo deletion frequency ranged from 1/21 (5%) to 2/9 (22%) in subjects reviewed by Cafferkey et al.
“The reported de novo deletion frequency ranged from 1/21 (5%) [13] to 2/9 (22%) [16] in subjects reviewed by Cafferkey et al. [18].”
From The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review (2015) · cites this paper as [18]
Cafferkey et al. found 83 (0.57%) of 14,605 patients referred for genetic testing had the 15q11.2 BP1-BP2 microdeletion.
“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.”
From The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review (2015) · cites this paper as [18]
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The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review
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“[18] presented data from 14,605 patients (primarily pediatric) referred for genetic testing using microarray analysis and found 83 (0.”
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- Authors
- Cafferkey, M., Ahn, J. W., Flinter, F., & Ogilvie, C.
- Affiliations
- King's College London (GB)
- Guy's and St Thomas' NHS Foundation Trust (GB)
- Corresponding author
- Ogilvie, Caroline
- Venue
- American Journal of Medical Genetics Part A
- Publisher
- Wiley
- Published
- 2014-04-08
- Volume
- 164
- Issue
- 8
- Pages
- 1916-1922
- ISSN
- 1552-4825 (ISSN-L)
- 1552-4833
- OpenAlex
- W2066697131
- Cited by
- 92
- References
- 12
- Citations by year
- 2026: 2 · 2025: 3 · 2024: 3 · 2023: 2 · 2022: 1 · 2021: 5 · 2020: 7 · 2019: 6 · 2018: 37 · 2017: 5 · 2016: 9 · 2015: 10 · 2014: 1
- FWCI
- 5.46
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- American Journal of Medical Genetics Part A (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Wellcome Trust (086034)
- 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 › Genetic Syndromes and Imprinting
- Keywords
- copy number variation, neurodevelopmental disorders, developmental delay, motor delay, speech and language delay, intellectual disability, genetic susceptibility loci, phenotypic traits
- MeSH terms
- Adolescent, Adult, Mental Disorders, Child, Developmental Disabilities, Child, Preschool, Chromosome Deletion, Chromosomes, Human, Pair 15, Female, Humans, Infant, Infant, Newborn, Male, Middle Aged, Phenotype, Syndrome, Genetic Variation, Prevalence, Case-Control Studies, Genetic Heterogeneity, Genetic Predisposition to Disease, Chromosome Disorders, Comparative Genomic Hybridization, Young Adult, Genetic Association Studies, Chromosome Breakpoints, Datasets as Topic
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