A 12 Mb deletion of 6p24.1 -> pter in an 18-gestational-week fetus with orofacial clefting, the Dandy-Walker malformation and bilateral multicystic kidneys

ASIA unversity > 醫學暨健康學院 > 生物科技學系 > 期刊論文 > Item 310904400/16296

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题名:	A 12 Mb deletion of 6p24.1 -> pter in an 18-gestational-week fetus with orofacial clefting, the Dandy-Walker malformation and bilateral multicystic kidneys
作者:	陳持平;Chen, Chih-Ping;Tzen, Chin-Yuan;Chern, Schu-Rern;Tsai, Fuu-Jen;Hsu, Chin-Yuan;Lee, Chen-Chi;Lee, Meng-Shan;Pan, Chen-Wen;Wang, Wayseen
贡献者:	生物科技學系
关键词:	Distal 6p deletion;Prenatal diagnosis;Orofacial clefting;Dandy–Walker malformation;Multicystic dysplasia of the kidneys;Array-CGH;FOXC1;OFC1
日期:	2009-01
上传时间:	2012-11-23 09:11:06 (UTC+0)
摘要:	We report an 18-gestational-week fetus with oligohydramnios, orofacial clefting, bilateral multicystic kidneys and the Dandy-Walker malformation. Characteristic craniofacial features include a turricephalic prominent forehead, hypertelorism, low-set ears, a flat nasal bridge, mid-face hypoplasia, bilateral cleft lip and palate, and a thick nuchal fold. Array-comparative genomic hybridization (CGH) analysis demonstrated a 12Mb deletion of 6p24.1-->pter.
關聯:	European Journal of Medical Genetics, 52(1):59–61
显示于类别:	[生物科技學系] 期刊論文

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