title: [Prenatal diagnosis of a rare case of 7q11.23 duplication syndrome].
abstract: OBJECTIVE
  To explore the application of combined techniques for the prenatal diagnosis of a case with 7q11.23 duplication.
  
  
  METHODS
  Amniocentesis was performed in the second trimester for a mother with a high risk suggested by serological prenatal screening. G-banded chromosomal analysis was performed on cultured amniocytes and peripheral blood samples from both parents. DNA from amniotic fluid sample was isolated for a BACs-on-Beads (BoBs) assay. To define the range of duplication, copy number variation was determined with single nucleotide polymorphism array (SNP array, Affymetrix CytoScan 750K) and fluorescence in situ hybridization (FISH) analysis.
  
  
  RESULTS
  Chromosomal analysis suggested that the fetus and both parents all had a normal karyotype, while a duplication of 7q11.23 was detected by the BoBs assay. SNP array revealed a 1.5 Mb duplication in chromosome 7q11.23, which was confirmed by FISH.
  
  
  CONCLUSIONS
  Combined prenatal BoBs, SNP array and FISH has enabled effective diagnose of a case with 7q11.23 syndrome.
authors.affiliation: Center for Prenatal Diagnosis, Maternal and Child's Health Hospital of Xinjiang Ughur Autonomous Region, Urumuqi, Xinjiang 830000, China. 1391158160@qq.com.
authors.forename: Guangjuan
authors.initials: G
authors.lastname: Ma
authors.forename: Yulin
authors.initials: Y
authors.lastname: Jiang
authors.forename: Zhen
authors.initials: Z
authors.lastname: Yu
authors.forename: Wencheng
authors.initials: W
authors.lastname: Dai
authors.forename: Ning
authors.initials: N
authors.lastname: Liu
authors.forename: Huijun
authors.initials: H
authors.lastname: Li
authors.forename: Gulinazi
authors.initials: G
authors.lastname: Mijiti
mesh_terms: D000328:Adult; D002871:Chromosome Banding; D025063:Chromosome Disorders / Q000175:diagnosis / Q000196:embryology* / Q000235:genetics*; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014314:Trisomy / Q000235:genetics*