title: [Genetic diagnosis and prenatal diagnosis of Angelman syndrome].
abstract: OBJECTIVE
  To evaluate the conventional cytogenetic methods in genetic diagnosis and prenatal diagnosis in the family with a proband of Angelman syndrome (AS).
  
  
  METHODS
  High-resolution G-banding karyotyping and fluorescence in situ hybridization (FISH) on metaphase chromosomes were performed.
  
  
  RESULTS
  Two AS patients and 1 normal fetus in the family were successfully detected by FISH.
  
  
  CONCLUSIONS
  Our result demonstrated that patient with type I AS could be detected by combining the techniques of high-resolution G-banding and FISH with clinical observation, which would offer accurate genetic counseling information to the geneticists and provide the prenatal diagnosis for the AS family.
authors.affiliation: State Key Laboratory of Medical Genetics of China, Central South University, Changsha, Hunan, 410078, PR China.
authors.forename: Hui-lin
authors.initials: HL
authors.lastname: Wang
authors.forename: De-sheng
authors.initials: DS
authors.lastname: Liang
authors.forename: Yan
authors.initials: Y
authors.lastname: Xia
authors.forename: Chun
authors.initials: C
authors.lastname: Xia
authors.forename: Ling-qian
authors.initials: LQ
authors.lastname: Wu
mesh_terms: D000328:Adult; D017204:Angelman Syndrome / Q000175:diagnosis* / Q000235:genetics*; D002675:Child, Preschool; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007621:Karyotyping; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis