title: Deletion of small nuclear ribonucleoprotein polypeptide N (SNRPN) in Prader-Willi syndrome detected by fluorescence in situ hybridization: two sibs with the typical phenotype without a cytogenetic deletion in chromosome 15q.
abstract: The small nuclear ribonucleoprotein polypeptide N (SNRPN) gene is regarded as one of the candidates for Prader-Willi syndrome (PWS). We describe two sibs with typical PWS presenting deletion of SNRPN detected by fluorescence in situ hybridization (FISH). Neither a cytogenetically detectable 15q12 deletion nor a deletion for the D15S11, D15S10, and GABRB3 cosmid probes were found in either patient. This implies a smaller deletion limited to the PWS critical region. FISH with a SNRPN probe will permit analysis of PWS patients with limited deletions not detectable with other probes.
authors.affiliation: Department of Pediatrics, Nagoya City University Medical School, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Ishikawa
authors.forename: T
authors.initials: T
authors.lastname: Kibe
authors.forename: Y
authors.initials: Y
authors.lastname: Wada
mesh_terms: D000328:Adult; D001324:Autoantigens / Q000235:genetics*; D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D010641:Phenotype; D011218:Prader-Willi Syndrome / Q000235:genetics*; D017411:Ribonucleoproteins, Small Nuclear; D055517:snRNP Core Proteins
chemical_list: D001324:Autoantigens; D017411:Ribonucleoproteins, Small Nuclear; C526417:SNRPN protein, human; D055517:snRNP Core Proteins