title: [Unbalanced translocation t (5;15) in a patient with Prader-Willi syndrome].
abstract: OBJECTIVE
  To diagnose and detect the molecular defect in a suspected patient with Prader-Willi syndrome.
  
  
  METHODS
  Genetic diagnosis and molecular genetic analysis were performed by using chromosome karyotype analysis, methylation-specific PCR (MS-PCR), and linkage analysis using short tandem repeat (STR).
  
  
  RESULTS
  The karyotype of the patient was 45, XX, der(5), t(5;15)(q35;q13), -15, and the parents were 46, XY and 46, XX, respectively, implying that the unbalanced translocation t(5;15) in the patient was de novo. Furthermore, MS-PCR and STR linkage analysis confirmed that the patient's 15q11-13 deletion was resulted from unbalanced translocation on paternal chromosome 15.
  
  
  CONCLUSIONS
  Genetic analysis should be applied in suspected patients with Prader-Willi syndrome to confirm the diagnosis. Cytogenetic and molecular techniques would be helpful in clinical diagnosis, genetic counseling and prenatal diagnosis.
authors.affiliation: Department of Genetics, Capital Institute of Pediatrics, Beijing, P.R. China.
authors.forename: Jin-li
authors.initials: JL
authors.lastname: Bai
authors.forename: Hong
authors.initials: H
authors.lastname: Wang
authors.forename: Yan-ling
authors.initials: YL
authors.lastname: Yang
authors.forename: Fang
authors.initials: F
authors.lastname: Song
mesh_terms: D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D019175:DNA Methylation; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics; D016133:Polymerase Chain Reaction; D011218:Prader-Willi Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D014178:Translocation, Genetic / Q000235:genetics*