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Detection of chromosome 15 deletion in Prader-Willi syndrome using fluorescence in situ hybridization
Y Suzuki1, I Sasagawa, H Yazawa
1Department of Urology, Yamagata University School of Medicine, Japan.
Archives of Andrology
|August 26, 2000
Abstract:
Deletion of chromosome 15 was investigated in 6 patients with Prader-Willi syndrome (PWS) using chromosome and fluorescence in situ hybridization (FISH) analysis. Although chromosome analysis using G-banding methods revealed the deletion of 15q11-q13 in only 3 cases, staining by FISH using D15S11 and/or small nuclear ribonucleoprotein polypeptide N (SNRPN) probes detected chromosome 15 deletion in all cases. It would appear that FISH analysis is an effective diagnostic test for the detection of chromosome 15 deletion in patients with PWS.