title: [Detection of subtelomeric copy number variations in children with intellectual disability].
abstract: 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.
authors.affiliation: Bayi Children's Hospital, General Military Hospital of Beijing, Beijing 100700, China. zhjfengzc@126.com.
authors.forename: Li-Na
authors.initials: LN
authors.lastname: Zhu
authors.forename: Yan
authors.initials: Y
authors.lastname: Wang
authors.forename: Wei
authors.initials: W
authors.lastname: Peng
authors.forename: Xiu-Wei
authors.initials: XW
authors.lastname: Ma
authors.forename: Xiao
authors.initials: X
authors.lastname: Yang
authors.forename: Xin
authors.initials: X
authors.lastname: Liu
authors.forename: Zhi-Chun
authors.initials: ZC
authors.lastname: Feng
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D056915:DNA Copy Number Variations; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D060885:Multiplex Polymerase Chain Reaction; D016615:Telomere