Detection of chromosome 15 deletion in Prader-Willi syndrome using fluorescence in situ hybridization

Authors
Suzuki, Y Sasagawa, I Yazawa, H Tateno, T Nakada, T
Citation
Y. Suzuki et al., Detection of chromosome 15 deletion in Prader-Willi syndrome using fluorescence in situ hybridization, ARCH ANDROL, 45(1), 2000, pp. 13-17
Citations number
13
Categorie Soggetti
da verificare
Journal title
ARCHIVES OF ANDROLOGY
ISSN journal
01485016 → ACNP
Volume
45
Issue
1
Year of publication
2000
Pages
13 - 17
Database
ISI
SICI code
0148-5016(200007/08)45:1<13:DOC1DI>2.0.ZU;2-5
Abstract
Deletion of chromosome 15 was investigated in 6 patients with Prader-Willi syndrome (PWS) using chromsome and fluorescence in situ hybridization (FISH ) analysis. Although chromosome analysis using G-banding methods revealed t he deletion of 15q11-q13 in only 3 cases, staining by FISH using D15S11 and /or small nuclear ribonucleoprotein polypeptide N (SNRPN) probes detected c hromosome 15 deletion in all cases. It would appear that FISH analysis is a n effective diagnostic test for the detection of chromosome 15 deletion in patients with PWS.