FISH analysis in Prader-Willi and Angelman syndrome patients

D Bettio; N Rizzi; D Giardino; G Grugni; V Briscioli; A Selicorni; F Carnevale; L Larizza

doi:10.1002/ajmg.1320560222

FISH analysis in Prader-Willi and Angelman syndrome patients

Am J Med Genet. 1995 Mar 27;56(2):224-8. doi: 10.1002/ajmg.1320560222.

Authors

D Bettio¹, N Rizzi, D Giardino, G Grugni, V Briscioli, A Selicorni, F Carnevale, L Larizza

Affiliation

¹ Laboratorio di Citogenetica, Centro Auxologico Italiano, Milan.

PMID: 7625450
DOI: 10.1002/ajmg.1320560222

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Angelman Syndrome / genetics*
Chromosome Banding
Chromosome Deletion*
Chromosome Mapping
Chromosomes, Human, Pair 15*
Humans
In Situ Hybridization, Fluorescence / methods*
Prader-Willi Syndrome / genetics*