Objective: To detect subtelomeric copy number variations in children with genetic intellectual disability (ID) using multiplex ligation-dependent probe amplification (MLPA), and to investigate the pathogenesis of genetic ID. Methods: A total of 68 children with ID who had normal Results: of G-banding karyotype analysis were included in the study. Their subtelomeric copy number variations were detected using MLPA P036. Results: Among the 68 children with ID, 7 (10%) showed subtelomeric copy number variations, and all the variations were deletion mutations. Among them, 1 case carried 2 subtelomeric microdeletions, and 1 case carried 4 subtelomeric microdeletions. Conclusions: Subtelomeric copy number variations are important causes of genetic ID. MLPA can be used as an economic and effective method for investigating the pathogenesis of genetic ID.
语种：
中文
第一作者：
第一作者机构：[1]Bayi Children's Hospital, General Military Hospital of Beijing, Beijing, 100700, China
推荐引用方式(GB/T 7714)：
Li-Na Z,Yan W,Wei P,等.Detection of subtelomeric copy number variations in children with intellectual disability[J].2015,17(12):
