title: [Application of chromosomal microarray analysis for the diagnosis of children with intellectual disability/developmental delay and a normal karytype].
abstract: OBJECTIVE
  To assess the value of chromosomal microarray analysis (CMA) for the diagnosis of children with intellectual disability/developmental delay (ID/DD) but a normal karytype.
  
  
  METHODS
  Peripheral blood samples from 92 ID/DD patients were analyzed with CMA using Affymetrix CytoScan 750K arrays. The results were analyzed by ChAS v3.0 software.
  
  
  RESULTS
  Eighteen cases (19.57%) were detected with abnormalities by CMA, among which 10 cases were diagnosed with microdeletion/microduplication syndromes. These included 2 Williams-Beuren syndromes, 2 Angelman syndromes, 2 Russell-Silver syndromes, 1 Smith-Magenis syndromes, 1 Wolf-Hirschhorn syndromes, 1 15q26 overgrowth syndrome and 1 Xq28 (MECP2) duplication syndrome. In addition, 8 cases were diagnosed with pathogenic copy number variations (pCNV).
  
  
  CONCLUSIONS
  CMA can significantly improve the diagnostic rate for patients with ID/DD, which is of great value for the treatment of such children and guidance of reproduction for their parents. Therefore, CMA should become the first-line diagnostic test for patients with ID/DD.
authors.affiliation: Department of Obstetric and Gynecologic, Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, West China Second Hospital, Sichuan University, Chengdu, Sichuan 610041, China. sunny630_cd@126.com.
authors.forename: Ting
authors.initials: T
authors.lastname: Hu
authors.forename: Hongmei
authors.initials: H
authors.lastname: Zhu
authors.forename: Zhu
authors.initials: Z
authors.lastname: Zhang
authors.forename: Jiamin
authors.initials: J
authors.lastname: Wang
authors.forename: Hongqian
authors.initials: H
authors.lastname: Liu
authors.forename: Xuemei
authors.initials: X
authors.lastname: Zhang
authors.forename: Haixia
authors.initials: H
authors.lastname: Zhang
authors.forename: Ze
authors.initials: Z
authors.lastname: Du
authors.forename: Lingping
authors.initials: L
authors.lastname: Li
authors.forename: He
authors.initials: H
authors.lastname: Wang
authors.forename: Shanling
authors.initials: S
authors.lastname: Liu
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D056915:DNA Copy Number Variations; D002658:Developmental Disabilities / Q000235:genetics* / Q000523:psychology; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics* / Q000523:psychology; D007360:Intelligence; D059785:Karyotype; D008297:Male; D046228:Microarray Analysis; D008875:Middle Aged; D010375:Pedigree; D055815:Young Adult