title: [Multiplex ligation-dependent probe amplification for detecting submicroscopic chromosomal abnormalities in Chinese children with global developmental delay or intellectual disability].
abstract: OBJECTIVE
  To evaluate the feasibility of screening large cohorts of patients with developmental delay or intellectual disability (DD/ID) with multiplex ligation-dependent probe amplification (MLPA).
  
  
  METHODS
  The peripheral blood samples were collected and DNA extracted from 276 patients with DD/ID from June 2012 to December 2013. MLPA was employed, including two distinct kits SALSA P036 and P070 for sub-telomere screening and SALSA P245 for 22 common microdeletion and microduplication syndromes.
  
  
  RESULTS
  MLPA analysis revealed 58 (21%) cases of chromosome aberrations. Among 32 cases of subtelomeric rearrangements on one chromosome, there were deletion (n = 25) and duplication (n = 7); subtelomeric deletions on p and q arms of one chromosome (n = 2); subtelomeric rearrangements on 2 chromosomes, one deletion and other duplication (n = 9); subtelomeric rearrangements on 3 chromosomes, 2 duplications and other deletion (n = 1). There were 1 case of subtelomeric rearrangements on chromosome X. A total of 11 syndromes were detected among 22 common microdeletion and microduplication syndromes and 6 located at subtelomeric regions.
  
  
  CONCLUSIONS
  MLPA is an effective cytogenetic diagnostic tool for detecting chromosomal abnormalities, such as DD/ID.
authors.affiliation: Department of Laboratory Center, Peking University First Hospital, Beijing 100034, China.
authors.forename: Songtao
authors.initials: S
authors.lastname: Wang
authors.affiliation: Department of Laboratory Center, Peking University First Hospital, Beijing 100034, China. Email: panmuren@263.net.
authors.forename: Hong
authors.initials: H
authors.lastname: Pan
authors.affiliation: Department of Laboratory Center, Peking University First Hospital, Beijing 100034, China.
authors.forename: Pei
authors.initials: P
authors.lastname: Pei
authors.affiliation: Department of Laboratory Center, Peking University First Hospital, Beijing 100034, China.
authors.forename: Xuefei
authors.initials: X
authors.lastname: Zheng
authors.affiliation: Department of Laboratory Center, Peking University First Hospital, Beijing 100034, China.
authors.forename: Ying
authors.initials: Y
authors.lastname: Zhang
authors.affiliation: Department of Laboratory Center, Peking University First Hospital, Beijing 100034, China.
authors.forename: Yinan
authors.initials: Y
authors.lastname: Ma
authors.affiliation: Department of Laboratory Center, Peking University First Hospital, Beijing 100034, China.
authors.forename: Xinhua
authors.initials: X
authors.lastname: Bao
authors.affiliation: Department of Laboratory Center, Peking University First Hospital, Beijing 100034, China.
authors.forename: Yanling
authors.initials: Y
authors.lastname: Yang
authors.affiliation: Department of Laboratory Center, Peking University First Hospital, Beijing 100034, China.
authors.forename: Ye
authors.initials: Y
authors.lastname: Wu
authors.affiliation: Department of Laboratory Center, Peking University First Hospital, Beijing 100034, China.
authors.forename: Yu
authors.initials: Y
authors.lastname: Qi
mesh_terms: D044466:Asian People; D002648:Child; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D003582:Cytogenetics; D006801:Humans; D008607:Intellectual Disability; D060885:Multiplex Polymerase Chain Reaction; D016615:Telomere