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

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Title:	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
Authors:	Chen, CP (Chen, Chih-Ping);Tzen, CY (Tzen, Chin-Yuan);Chern, SR (Chern, Schu-Rern);Tsai, FJ (Tsai, Fuu-Jen);Hsu, CY (Hsu, Chin-Yuan);Lee, CC (Lee, Chen-Chi);Lee, MS (Lee, Meng-Shan);Pan, CW (Pan, Chen-Wen);Wang, W (Wang, Wayseen)
Contributors:	Department of Biotechnology
Keywords:	Distal 6p deletion;Prenatal diagnosis;Orofacial clefting;Dandy-Walker malformation;Multicystic dysplasia of the kidneys;Array-CGH;FOXC1;OFC1
Date:	2009-01
Issue Date:	2010-03-26 02:29:36 (UTC+0)
Publisher:	Asia University
Abstract:	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 12 Mb deletion of 6p24.1 -> pter.
Relation:	EUROPEAN JOURNAL OF MEDICAL GENETICS 52 (1): 59-61
Appears in Collections:	[Department of Biotechnology] Journal Article

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