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

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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:	Chih-Ping Chen;Shuan-Pei Lin;Fuu-Jen Tsai;Schu-Rern Chern;Chen-Chi Lee;Wayseen Wang
贡献者:	生醫所
日期:	2008-07-01
上传时间:	2015-03-16 15:40:33 (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: 3,18,33,000–3,74,77,000 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.
關聯:	European Journal of Medical Genetics, 51(4), 368-372. doi:10.1016/j.ejmg.2008.02.011 https://doi.org/10.1016/j.ejmg.2008.02.011
显示于类别:	[生物醫學研究所] 期刊論文

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