Deletion of 15q11.2(BP1‐BP2) region: Further evidence for lack of phenotypic specificity in a pediatric population. (6th May 2015)

• Record Type: Journal Article
• Authors: 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.
• Is Part Of: American journal of medical genetics. Volume 167:Number 9(2015:Sep.)
• Page Start: 2098
• Page End: 2102
• Publication Date: 2015-05-06
• Subjects: Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.37134
• Languages: English
• ISSNs: 1552-4825

Abstract

<abstract abstract-type="main" xml:lang="en"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="ajmga37134-sec-0001" sec-type="section"> <p>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 to be cognizant of the inherent ascertainment bias in the literature. We performed a detailed medical record review for 55 patients with this 15q11.2 microdeletion and report the clinical features of the 35 patients for whom information was available. We compared our results to the recent report by Cafferkey et al. in this journal. Our conclusion is that the phenotypic spectrum is too broad and non‐specific to constitute a bona fide "syndrome" and that further research must be done to delineate the contribution of this CNV to phenotype. © 2015 Wiley Periodicals, Inc.</p> </sec> </abstract>