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    Please use this identifier to cite or link to this item: http://asiair.asia.edu.tw/ir/handle/310904400/25209


    Title: Prenatal diagnosis and molecular cytogenetic characterization of a de novo interstitial deletion of 7q (7q22.1->q31.1)
    Authors: 陳持平;Chen, Chih-Ping;Shing-Jyh Chang;Schu-Rern Chern;Peih-Shan Wu;Yu-Ting Chen;Jun-Wei Su;Wen-Lin Chen;Wayseen Wang
    Contributors: 生物科技學系
    Keywords: 7q22–q31 deletion;Chromosome 7q;Facial cleft;Hypogenitalism;Interstitial deletion;Prenatal diagnosis
    Date: 2013-06
    Issue Date: 2013-07-11 13:55:36 (UTC+8)
    Abstract: We present prenatal diagnosis and molecular cytogenetic characterization of de novo interstitial deletion of 7q (7q22.1 → q31.1) by aCGH, FISH and QF-PCR in a fetus with an abnormal maternal serum screening result and ultrasound findings of facial cleft and hypogenitalism. We discuss the genotype–phenotype correlation and the consequence of haploinsufficiency of ZKSCAN5, ARPC1A, CYP3A43, RELN, LAMB1, IMMP2L and DOCK4 in this case.
    Relation: GENE,21(2),311–315.
    Appears in Collections:[生物科技學系] 期刊論文

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