Detection of chromosome 15 deletion in Prader-Willi syndrome using fluorescence in situ hybridization.
作者信息
Suzuki Y, Sasagawa I, Yazawa H, Tateno T, Nakada T
机构信息
Department of Urology, Yamagata University School of Medicine, Japan.
出版信息
Arch Androl. 2000 Jul-Aug;45(1):13-7. doi: 10.1080/014850100409963.
PMID:10959497
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.
摘要
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