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Article

Deletion of 15q11.2(BP1-BP2) region: further evidence for lack of phenotypic specificity in a pediatric population.

American journal of medical genetics. Part A - 1 Sept 2015

Hashemi Bita, Bassett Anne, Chitayat David, Chong Karen, Feldman Mark, Flanagan Janine, Goobie Sharan, Kawamura Anne, Lowther Chelsea, Prasad Chitra, Siu Victoria, So Joyce, Tung Sharon, Speevak Marsha, Stavropoulos Dimitri J, Carter Melissa T

Abstract excerpt

Microdeletion of the BP1-BP2 region at 15q11.2 is a recurrent copy number variant (CNV) frequently found in patients undergoing chromosomal microarray (CMA). Genetic counselling regarding this CNV is challenging due to the wide range of phenotypic presentation in reported patients and lack of general population-based data. As one of the most common reasons for CMA is childhood developmental delay, clinicians need...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 25946043
DOI: 10.1002/ajmg.a.37134

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Deletion of 15q11.2(BP1-BP2) region: further evidence for lack of phenotypic specificity in a pediatric population.PMID 25946043Read ↗

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