Cri-du-chat (5p-) syndrome presenting with cerebellar hypoplasia and hypospadias: prenatal diagnosis and aCGH characterization using uncultured amniocytes

ASIA unversity > 醫學暨健康學院 > 生物科技學系 > 期刊論文 > Item 310904400/25213

jsp.display-item.identifier=請使用永久網址來引用或連結此文件: http://asiair.asia.edu.tw/ir/handle/310904400/25213

题名:	Cri-du-chat (5p-) syndrome presenting with cerebellar hypoplasia and hypospadias: prenatal diagnosis and aCGH characterization using uncultured amniocytes
作者:	陳持平;Chen, Chih-Ping;Hu, Ming-Chao;Huang, Ming-Chao;Chen, Yi-Yung;Chen, Yi-Yung;Ch, Schu-Rern;Chern, Schu-Rern;Wu, Peih-Shan;Wu, Peih-Shan;Chen, Yu-Ting;Chen, Yu-Ting;Su, Jun-Wei;Su, Jun-Wei;Wang, Wayseen;Wang, Wayseen
贡献者:	生物科技學系
日期:	2013-07
上传时间:	2013-07-11 05:55:42 (UTC+0)
摘要:	We present prenatal diagnosis of a de novo distal deletion involving 5p(5p15.1→pter) using uncultured amniocytes in a pregnancy with cerebellar hypoplasia, hypospadias and facial dysmorphisms in the fetus. We discuss the genotype-phenotype correlation and the consequence of haploinsufficiency of CTNND2, SEMA5A, TERT, SRD5A1 and TPPP. We speculate that haploinsufficiency of SRD5A1 and TPPP may be responsible for hypospadias and cerebellar hypoplasia, respectively, in this case.
關聯:	GENE, 524(2):407-411.
显示于类别:	[生物科技學系] 期刊論文

文件中的档案:

档案	描述	大小	格式	浏览次数
index.html		0Kb	HTML	503	检视/开启

在ASIAIR中所有的数据项都受到原著作权保护.