title: [A study on genetic diagnosis for Angelman syndrome].
abstract: OBJECTIVE
  To study the genetic diagnosis of Angelman syndrome(AS), and provide information for clinic diagnosis and counseling to AS families.
  
  
  METHODS
  Methylation specific-PCR (MS-PCR) was used for primary diagnosis of 16 clinically suspected AS cases, and linkage analysis by short tandem repeat (STR) was applied to detect the molecular genetic defect in the nuclear families.
  
  
  RESULTS
  In this study, 10 AS patients were identified by MS-PCR, and 9 of them with maternal deletion in chromosome 15q11-q13, 1 with imprinting defect in chromosome 15q11-q13 were confirmed by STR linkage analysis.
  
  
  CONCLUSIONS
  Most of the AS patients could be confirmed by MS-PCR. And STR linkage analysis can detect the molecular defect of AS. It is very important for disease diagnosis, genetic counseling and prenatal diagnosis to perform the related genetic diagnosis.
authors.affiliation: Department of Medical Genetics, Capital Institute of Pediatrics, Beijing, 100020, PR China.
authors.forename: Li-jun
authors.initials: LJ
authors.lastname: Liu
authors.forename: Jin-li
authors.initials: JL
authors.lastname: Bai
authors.forename: Yu-jin
authors.initials: YJ
authors.lastname: Qu
authors.forename: Yu-wei
authors.initials: YW
authors.lastname: Jin
authors.forename: Hong
authors.initials: H
authors.lastname: Wang
authors.forename: Fang
authors.initials: F
authors.lastname: Song
mesh_terms: D017204:Angelman Syndrome / Q000175:diagnosis* / Q000235:genetics*; D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D010375:Pedigree