Deletion of 15q11.2 (BP1-BP2) Region: Further Evidence for Lack of Phenotypic Specificity in a Pediatric Population

作者：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

来源：American Journal of Medical Genetics, Part A, 2015, 167(9): 2098-2102.

DOI：10.1002/ajmg.a.37134

• microdeletion
• 15q11.2
• array CGH
• autism
• epilepsy
• developmental delay

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.

• 出版日期2015-9