title: [Molecular diagnosis of children with unexplained intellectual disability/ developmental delay by array-CGH].
abstract: OBJECTIVE
  To analyze the potential pathogenic genomic imbalance in children with unexplained intellectual disability (ID) and/or developmental delay (DD) and its association with phenotypes, and to investigate the value of array-based comparative genomic hybridization (array-CGH) in clinical molecular genetic diagnosis.
  
  
  METHODS
  The whole genome of 16 children with ID/DD was scanned by the array-CGH for detection of genomic copy number variations (CNVs), and the revealed genomic imbalance was confirmed by multiplex ligation-dependent probe amplification.
  
  
  RESULTS
  G-band karyotyping of peripheral blood cells showed no abnormalities in the 16 children. The results of the array-CGH revealed that 6 (38%) of the 16 patients had genomic CNVs, and 3 cases of CNVs were normal polymorphic changes; 1 CNV was a microdeletion of 4p16.3, which was the critical region for Wolf-Hirschhorn syndrome, and 1 CNV was a microdeletion of 7q11.23, which was the critical region for Williams-Beuren syndrome. Moreover, a CNV was identified with two duplications at 2q22.2 and 15q21.3 in a boy, which proved to have a clinical significance due to its association with ID, brain DD, unusual facies, cryptorchidism, irregular dentition, etc.
  
  
  CONCLUSIONS
  Array-CGH allows for the etiological diagnosis in some of the children with unexplained ID/DD. As a high-throughput and rapid tool, it has a great clinical significance in the etiological diagnosis of ID/DD.
authors.affiliation: Department of Pediatrics, Affiliated Hospital of Academy of Military Medical Sciences, Beijing 100071, China. hxyjs2001@aliyun.com.
authors.forename: Xi-Yu
authors.initials: XY
authors.lastname: He
authors.forename: Xiao-Chun
authors.initials: XC
authors.lastname: Chen
authors.forename: Ran
authors.initials: R
authors.lastname: Li
authors.forename: Pei
authors.initials: P
authors.lastname: Li
authors.forename: Ai-Mei
authors.initials: AM
authors.lastname: Lu
mesh_terms: D000293:Adolescent; D002648:Child; D055028:Comparative Genomic Hybridization / Q000379:methods*; D002658:Developmental Disabilities / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D060885:Multiplex Polymerase Chain Reaction