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.
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. - In: AMERICAN JOURNAL OF MEDICAL GENETICS. - ISSN 0148-7299. - 56:2(1995 Mar 27), pp. 224-228.
Titolo: | FISH analysis in Prader-Willi and Angelman syndrome patients |
Autori: | LARIZZA, LIDIA (Ultimo) |
Parole Chiave: | Angelman syndrome; chromosome 15; FISH analysis; Prader-Willi syndrome |
Settore Scientifico Disciplinare: | Settore MED/03 - Genetica Medica |
Data di pubblicazione: | 27-mar-1995 |
Rivista: | |
Tipologia: | Article (author) |
Digital Object Identifier (DOI): | http://dx.doi.org/10.1002/ajmg.1320560222 |
Appare nelle tipologie: | 01 - Articolo su periodico |