TY - JOUR
T1 - Deletion of 15q11.2(BP1-BP2) region
T2 - Further evidence for lack of phenotypic specificity in a pediatric population
AU - Hashemi, Bita
AU - Bassett, Anne
AU - Chitayat, David
AU - Chong, Karen
AU - Feldman, Mark
AU - Flanagan, Janine
AU - Goobie, Sharan
AU - Kawamura, Anne
AU - Lowther, Chelsea
AU - Prasad, Chitra
AU - Siu, Victoria
AU - So, Joyce
AU - Tung, Sharon
AU - Speevak, Marsha
AU - Stavropoulos, Dimitri J.
AU - Carter, Melissa T.
N1 - Publisher Copyright:
© 2015 Wiley Periodicals, Inc.
PY - 2015/9/1
Y1 - 2015/9/1
N2 - 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.
AB - 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.
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U2 - 10.1002/ajmg.a.37134
DO - 10.1002/ajmg.a.37134
M3 - Article
C2 - 25946043
AN - SCOPUS:84939472330
SN - 1552-4825
VL - 167
SP - 2098
EP - 2102
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 9
ER -