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 310904400/8289

Please use this identifier to cite or link to this item: http://asiair.asia.edu.tw/ir/handle/310904400/8289

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:	[生物科技學系] 期刊論文

Files in This Item:

File	Description	Size	Format
index.html		0Kb	HTML	1655	View/Open
184.doc		37Kb	Microsoft Word	1524	View/Open