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.

中國醫藥大學機構典藏 China Medical University Repository, Taiwan > 中醫學院 > 中醫學系暨碩博班 > 期刊論文 > Item 310903500/2820

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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:	陳持平(Chih-Ping Chen)*;(Shuan-Pei Lin);蔡輔仁(Fuu-Jen Tsai);(Schu-Rern Chern);(Chen-Chi Lee);(Wayseen Wang)
贡献者:	中醫學院中醫學系學士班中醫內科學科 Interstitial 15q deletion;15q14;Cleft palate;Epilepsy;Ventricular septal defect;Mental retardation;Developmental delay;Array-CGH;CHRNA7;ACTC
日期:	2008-07
上传时间:	2009-08-20 17:56:53 (UTC+8)
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: 3,18,33,000e3,74,77,000 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.
關聯:	European Journal of Medical Genetics 51(4):368~372
显示于类别:	[中醫學系暨碩博班] 期刊論文

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