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    Please use this identifier to cite or link to this item: http://asiair.asia.edu.tw/ir/handle/310904400/64312


    Title: Chromosome 22q11.2 deletion syndrome: prenatal diagnosis, array comparative genomic hybridization characterization using uncultured amniocytes and literature review
    Authors: 陳持平;Chen, Chih-Ping;Hua, Jian-Pei;Huang, Jian-Pei;Chen, Yi-Yung;Chen, Yi-Yung;Ch, Schu-Rern;Chern, Schu-Rern;Wu, Peih-Shan;Wu, Peih-Shan;Su, Jun-Wei;Su, Jun-Wei;Chen, Yu-Ting;Chen, Yu-Ting;Chen, Wen-Lin;Chen, Wen-Lin;Wang, Wayseen;Wang, Wayseen
    Contributors: 生物科技學系
    Keywords: 22q11.2 deletion syndrome;aCGH;Conotruncal heart malformations;Prenatal diagnosis
    Date: 201309
    Issue Date: 2013-10-29 17:36:17 (UTC+8)
    Abstract: We present prenatal diagnosis of de novo 22q11.2 microdeletion syndrome using uncultured amniocytes in a pregnancy with conotruncal heart malformations in the fetus. We discuss the genotype-phenotype correlation and the consequence of haploinsufficiency of TBX1, COMT, UFD1L, GNB1L and MED15 in the deleted region. We review the literature of chromosomal loci and genes responsible for conotruncal heart malformations and tetralogy of Fallot.
    Relation: GENE, 527(1):405-9.
    Appears in Collections:[生物科技學系] 期刊論文

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