title: [Application of chromosome microarray analysis for fetuses with multicystic dysplastic kidney].
abstract: OBJECTIVE
  To explore the genetic etiology of fetuses with multicystic dysplastic kidney (MCDK) by chromosome microarray analysis (CMA).
  
  
  METHODS
  Seventy-two fetuses with MCDK were analyzed with conventional cytogenetic technique, among which 30 fetuses with a normal karyotype were subjected to CMA analysis with Affymetrix CytoScan HD arrays by following the manufacturer's protocol. The data was analyzed with ChAS software.
  
  
  RESULTS
  Conventional cytogenetic technique has revealed three fetuses (4.2%) with identifiable chromosomal aberrations. CMA analysis has detected pathogenic CNVs in 5 fetuses (16.7%), which included two well-known microdeletion or microduplication syndromes, i.e., 17q12 microdeletion syndrome and Williams-Beuren syndrome (WBS) and three submicroscopic imbalances at 4q35.2, 22q13.33, and 1p33. PEX26, FKBP6, TUBGCP6, ALG12, and CYP4A11 are likely the causative genes.
  
  
  CONCLUSIONS
  CMA can identify the submicroscopic imbalances unidentifiable by conventional cytogenetic technique, and therefore has a significant role in prenatal diagnosis and genetic counseling. The detection rate of pathogenic CNVs in fetuses with MCDK was 16.7% by CMA. 17q12 microdeletion syndrome and WBS are associated with MCDK. Mutations of PEX26, FKBP6, TUBGCP6, ALG12, and CYP4A11 genes may be the causes for MCDK.
authors.affiliation: Department of Prenatal Diagnosis Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, Guangdong 510623, China. canliao@hotmail.com.
authors.forename: Feifei
authors.initials: F
authors.lastname: Chen
authors.forename: Tingying
authors.initials: T
authors.lastname: Lei
authors.forename: Fang
authors.initials: F
authors.lastname: Fu
authors.forename: Ru
authors.initials: R
authors.lastname: Li
authors.forename: Yongling
authors.initials: Y
authors.lastname: Zhang
authors.forename: Xiangyi
authors.initials: X
authors.lastname: Jing
authors.forename: Xin
authors.initials: X
authors.lastname: Yang
authors.forename: Jin
authors.initials: J
authors.lastname: Han
authors.forename: Li
authors.initials: L
authors.lastname: Zhen
authors.forename: Min
authors.initials: M
authors.lastname: Pan
authors.forename: Can
authors.initials: C
authors.lastname: Liao
mesh_terms: D000328:Adult; D002875:Chromosomes / Q000235:genetics*; D005260:Female; D005333:Fetus; D006801:Humans; D008297:Male; D046228:Microarray Analysis / Q000379:methods; D021782:Multicystic Dysplastic Kidney / Q000235:genetics*; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods; D055815:Young Adult