title: [Chromosome microarray analysis of patients with 18q deletion syndrome].
abstract: OBJECTIVE
  To analyze the correlation between the genotype and phenotype of 18q deletion syndrome with chromosome microarray analysis (CMA).
  
  
  METHODS
  Eight cases with 18q deletion syndrome were selected, including two affected fetuses and six children patients. DNA was extracted and hybridized with Affymetrix CytoScan TM 750K arrays following the manufacturer's standard protocol. The data was analyzed with a special software package.
  
  
  RESULTS
  CMA analysis identified pathogenic copy number variations (CNVs) on 18q in all cases, which ranged from 6.612 Mb to 22.973 Mb. NFATC1, GALR1, MBP, SALL3 and TSHZ1 are likely to be causative genes for congenital heart disease, psychological, growth retardation, and cleft palate.
  
  
  CONCLUSIONS
  CMA can precisely locate the breakpoints of 18q and facilitate definition of the genotype-phenotype correlations, which is useful for prognosis.
authors.affiliation: Department of Stomatology, Women and Children's Medical Center of Guangzhou, Guangzhou Medical University, Guangzhou, Guangdong 510623, China. wht199902@163.com.
authors.forename: Jiebin
authors.initials: J
authors.lastname: Feng
authors.forename: Jiansuo
authors.initials: J
authors.lastname: Hao
authors.forename: Yiyang
authors.initials: Y
authors.lastname: Chen
authors.forename: Fan
authors.initials: F
authors.lastname: Li
authors.forename: Jin
authors.initials: J
authors.lastname: Han
authors.forename: Ru
authors.initials: R
authors.lastname: Li
authors.forename: Yongling
authors.initials: Y
authors.lastname: Zhang
authors.forename: Tingyin
authors.initials: T
authors.lastname: Lei
authors.forename: Feifei
authors.initials: F
authors.lastname: Chen
authors.forename: Qiaoli
authors.initials: Q
authors.lastname: Guo
authors.forename: Can
authors.initials: C
authors.lastname: Liao
authors.forename: Hongtao
authors.initials: H
authors.lastname: Wang
mesh_terms: D002675:Child, Preschool; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000235:genetics*; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics*; D056915:DNA Copy Number Variations; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D046228:Microarray Analysis