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

被引:0
作者
Suzuki, Y [1 ]
Sasagawa, I [1 ]
Yazawa, H [1 ]
Tateno, T [1 ]
Nakada, T [1 ]
机构
[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.
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页码:13 / 17
页数:5
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