DETECTION OF CHROMOSOME 15 DELETION IN PRADER?WILLI SYNDROME USING FLUORESCENCE IN SITU HYBRIDIZATION

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 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.

• Fluorescence In Situ Hybridization Prader Ndash Willi Syndrome