A 5.6-Mb deletion in 15q14 in a boy with speech and language disorder, cleft palate, epilepsy, a ventricular septal defect, mental retardation and developmental delay

ASIA unversity > 醫學暨健康學院 > 生物科技學系 > 期刊論文 > Item 310904400/8326

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/310904400/8326

题名:	A 5.6-Mb deletion in 15q14 in a boy with speech and language disorder, cleft palate, epilepsy, a ventricular septal defect, mental retardation and developmental delay
作者:	Chen, CP (Chen, Chih-Ping);Lin, SP (Lin, Shuan-Pei);Tsai, FJ (Tsai, Fuu-Jen);Chern, SR (Chern, Schu-Rern);Lee, CC (Lee, Chen-Chi);Wang, W (Wang, Wayseen)
贡献者:	Department of Biotechnology
关键词:	interstitial 15q deletion;15q14;cleft palate;epilepsy;ventricular septal defect;mental retardation;developmental delay;array-CGH;CHRNA7;ACTC;JUVENILE MYOCLONIC EPILEPSY;MAJOR SUSCEPTIBILITY LOCUS;INTERSTITIAL DELETION;CHROMOSOME 15Q14
日期:	2008-07
上传时间:	2010-03-26 02:29:50 (UTC+0)
出版者:	Asia University
摘要:	We report a male patient with speech and language disorder, cleft palate, epilepsy, a ventricular septal defect, mental retardation and developmental delay. Characteristic facial features include low-set ears, a beak-like nose, a prominent nasal bridge, a long philtrum, a narrow forehead, a long face, a pointed chin and dental position abnormalities. Array-comparative genomic hybridization (CGH) analysis demonstrated the presence of a 5.6-Mb deletion in 15q14 (chromosome 15: 3,18,33,000-3,74,77,000 bp). The present case provides the evidence that 15q14 deletion outside the region encompassing the CHRNA7 gene can cause generalized epilepsy, and a locus in 15q14 is associated with speech and language disorder. (C) 2008 Elsevier Masson SAS. All rights reserved.
關聯:	EUROPEAN JOURNAL OF MEDICAL GENETICS, 51 (4): 368-372
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	1578	检视/开启
222.doc		35Kb	Microsoft Word	920	检视/开启

在ASIAIR中所有的数据项都受到原著作权保护.

数据加载中.....