[1] Yamagata Univ, Sch Med, Dept Urol, Yamagata 9909585, Japan
来源:
ARCHIVES OF ANDROLOGY
|
2000年
/
45卷
/
01期
关键词:
chromosome analysis;
fluorescence in situ hybridization;
Prader-Willi syndrome;
D O I:
暂无
中图分类号:
R69 [泌尿科学(泌尿生殖系疾病)];
学科分类号:
摘要:
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.