title: [Relationship between 22q11 microdeletion syndrome and congenital heart disease].
abstract: OBJECTIVE
  To investigate the relationship between 22q11 microdeletion syndrome and congenital heart disease.
  
  
  METHODS
  Clinical screening assessment and genetic testing using standard fluorescence in-situ hybridization (FISH) were applied in 207 subjects suspected for 22q11 microdeletion syndrome. Patients with 22q11 microdeletion syndrome were examined by echocardiography, patients with complicated congenital heart disease were examined further by cardiac catheterization.
  
  
  RESULTS
  22q11 microdeletion syndrome was detected in 39 subjects. The incidence of 22q11 microdeletion syndrome was 1.6% in suspects with simple congenital heart disease without extracardiac manifestations, 53.0% in suspects with congenital heart disease combined with at least two extracardiac manifestations, 3.8% in suspects without congenital heart disease. The incidence of congenital heart disease in 22q11 microdeletion syndrome patient and non 22q11 microdeletion syndrome patient was 94.9% and 54.2% (P < 0.01). The incidence of congenital heart disease combined with at least two extracardiac manifestations in 22q11 microdeletion syndrome patient and non 22q11 microdeletion syndrome patient was 89.7% and 18.5% (P < 0.01). In 22q11 microdeletion syndrome patients, Tetralogy of Fallot was the most common type of congenital heart disease. Dysmorphic faces, learning difficulties and retarded physical development were the most common extracardiac manifestations of the congenital heart disease patients.
  
  
  CONCLUSIONS
  22q11 microdeletion syndrome is related to congenital heart disease.
authors.affiliation: Department of Child Health, Children's Hospital, Zhejiang University School of Medicine, Hangzhou 310003, China.
authors.forename: Yu-Feng
authors.initials: YF
authors.lastname: Qin
authors.forename: Chun-Hong
authors.initials: CH
authors.lastname: Xie
authors.forename: Jian-Bin
authors.initials: JB
authors.lastname: Yang
authors.forename: Ding-Wen
authors.initials: DW
authors.lastname: Wu
authors.forename: Jie
authors.initials: J
authors.lastname: Shao
authors.forename: Zheng-Yan
authors.initials: ZY
authors.lastname: Zhao
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008297:Male