title: [Clinical detection of 22q11 microdeletion in the patients with congenital heart disease by multiplex ligation dependent probe amplification].
abstract: OBJECTIVE
  To detect 22q11 microdeletion in the children and fetuses affected by congenital heart defects.
  
  
  METHODS
  MLPA P250 kit was used to detect 22q11 microdeletion in 100 cases of sporadic congenital heart defects including 40 fetuses and 60 patients diagnosed by ultrasound.
  
  
  RESULTS
  Two cases from the fetuses and 1 case from the patients were found to have 22q11 microdeletion.
  
  
  CONCLUSIONS
  Three cases had 22q11 microdeletion in the congenital heart defects.
authors.affiliation: Center for Reproduction and Genetics, Nanjing Medical University Affiliated Suzhou Hospital, Suzhou 215002, China.
authors.forename: Ying
authors.initials: Y
authors.lastname: Chen
authors.forename: Hui-Juan
authors.initials: HJ
authors.lastname: Kan
authors.forename: Jun
authors.initials: J
authors.lastname: Mao
authors.forename: Jie
authors.initials: J
authors.lastname: Ding
authors.forename: Qing-Xia
authors.initials: QX
authors.lastname: Meng
authors.forename: Hai-Bo
authors.initials: HB
authors.lastname: Li
authors.forename: Hong-Bo
authors.initials: HB
authors.lastname: Cheng
authors.forename: Min-Juan
authors.initials: MJ
authors.lastname: Liu
authors.forename: Ying
authors.initials: Y
authors.lastname: Sun
authors.forename: Wen-Hua
authors.initials: WH
authors.lastname: Yan
authors.forename: Hong
authors.initials: H
authors.lastname: Li
mesh_terms: D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D005260:Female; D006330:Heart Defects, Congenital / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D021141:Nucleic Acid Amplification Techniques / Q000379:methods*