title: [Analysis of 22 patients with congenital cleft lip and palate using high-resolution chromosome microarray].
abstract: OBJECTIVE
  To assess the value of chromosome microarray analysis (CMA) for identifying the etiology of patients with congenital cleft lip and palate.
  
  
  METHODS
  Twenty-two patients with no identifiable chromosomal aberrations by conventional cytogenetic technique were selected. DNA was extracted and hybridized with Affymetrix CytoScan(TM) HD arrays following the manufacturer's protocol. The data were analyzed with a CHAS v2.0 software.
  
  
  RESULTS
  CMA analysis has identified submicroscopic copy number variants (CNVs) in all of the cases, which have ranged from 100 kb to 1.8 Mb. Potential pathogenic CNVs were identified in 5 patients (22.7%), which involved microdeletions and microduplications on 8p23.1, 10q22.2-q22.3, 6q26, 20p12.1 and 18q12.3. MYST4, MACROD2 and SOX7 genes are likely the causative genes.
  
  
  CONCLUSIONS
  CMA is an effective method for identification of etiology in patients with cleft lip and palate. CMA should be provided for patients with cleft lip and palate but a normal karyotype. Especially for those with additional structural abnormalities, there is a high risk for submicroscopic chromosomal aberrations.
authors.affiliation: Institute of Perinatology and Birth Health, Women and Children's Medical Center of Guangzhou, Guangzhou Medical University, Guangzhou, Guangdong 510623, P.R. China. canliao@hotmail.com.
authors.forename: Tingying
authors.initials: T
authors.lastname: Lei
authors.forename: Ying
authors.initials: Y
authors.lastname: Zhang
authors.forename: Hongtao
authors.initials: H
authors.lastname: Wang
authors.forename: Fan
authors.initials: F
authors.lastname: Li
authors.forename: Yingqiu
authors.initials: Y
authors.lastname: Cui
authors.forename: Fang
authors.initials: F
authors.lastname: Fu
authors.forename: Ru
authors.initials: R
authors.lastname: Li
authors.forename: Guie
authors.initials: G
authors.lastname: Xie
authors.forename: Yongling
authors.initials: Y
authors.lastname: Zhang
authors.forename: Can
authors.initials: C
authors.lastname: Liao
mesh_terms: D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D025063:Chromosome Disorders / Q000175:diagnosis / Q000235:genetics; D002971:Cleft Lip / Q000175:diagnosis / Q000235:genetics*; D002972:Cleft Palate / Q000175:diagnosis / Q000235:genetics*; D056915:DNA Copy Number Variations; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D046228:Microarray Analysis