title: Detection of chromosome 15 deletion in Prader-Willi syndrome using fluorescence in situ hybridization.
abstract: Deletion of chromosome 15 was investigated in 6 patients with Prader-Willi syndrome (PWS) using chromosome and fluorescence in situ hybridization (FISH) analysis. Although chromosome analysis using G-banding methods revealed the deletion of 15q11-q13 in only 3 cases, staining by FISH using D15S11 and/or small nuclear ribonucleoprotein polypeptide N (SNRPN) probes detected chromosome 15 deletion in all cases. It would appear that FISH analysis is an effective diagnostic test for the detection of chromosome 15 deletion in patients with PWS.
authors.affiliation: Department of Urology, Yamagata University School of Medicine, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Suzuki
authors.forename: I
authors.initials: I
authors.lastname: Sasagawa
authors.forename: H
authors.initials: H
authors.lastname: Yazawa
authors.forename: T
authors.initials: T
authors.lastname: Tateno
authors.forename: T
authors.initials: T
authors.lastname: Nakada
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D011218:Prader-Willi Syndrome / Q000235:genetics*