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    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 10:29:36 (UTC+8)
    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

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