title: FISH analysis in Prader-Willi and Angelman syndrome patients.
abstract: We report on a combined high resolution cytogenetic and fluorescent in situ hybridization study (FISH) on 15 Prader-Willi syndrome (PWS) and 14 Angelman syndrome (AS) patients. High resolution banding showed a microdeletion in the 15q11-q13 region in 7 out of 15 PWS patients, and FISH analysis of the D15S11 and SNRPN cosmids demonstrated absence of the critical region in three additional cases. Likewise 8 out of 14 AS patients were found to be deleted with FISH, using the GABRB3 specific cosmid, whereas only 4 of them had a cytogenetically detectable deletion.
authors.affiliation: Laboratorio di Citogenetica, Centro Auxologico Italiano, Milan.
authors.forename: D
authors.initials: D
authors.lastname: Bettio
authors.forename: N
authors.initials: N
authors.lastname: Rizzi
authors.forename: D
authors.initials: D
authors.lastname: Giardino
authors.forename: G
authors.initials: G
authors.lastname: Grugni
authors.forename: V
authors.initials: V
authors.lastname: Briscioli
authors.forename: A
authors.initials: A
authors.lastname: Selicorni
authors.forename: F
authors.initials: F
authors.lastname: Carnevale
authors.forename: L
authors.initials: L
authors.lastname: Larizza
mesh_terms: D017204:Angelman Syndrome / Q000235:genetics*; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002884:Chromosomes, Human, Pair 15; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods*; D011218:Prader-Willi Syndrome / Q000235:genetics*