ASIA unversity:Item 310904400/25208
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    题名: Prenatal diagnosis of ring chromosome 2 with lissencephaly and 2p25.3 and 2q37.3 microdeletions detected using array comparative genomic hybridization
    作者: 陳持平;Chen, Chih-Ping;Lin, Chen-Ju;Lin, Chen-Ju;Cha, Tung-Yao;Chang, Tung-Yao;Ch, Schu-Rern;Chern, Schu-Rern;Wu, Peih-Shan;Wu, Peih-Shan;Chen, Yu-Ting;Chen, Yu-Ting;Su, Jun-Wei;Su, Jun-Wei;Lee, Chen-Chi;Lee, Chen-Chi;Chen, Li-Feng;Chen, Li-Feng;Wang, Wayseen;Wang, Wayseen
    贡献者: 生物科技學系
    日期: 2013-04
    上传时间: 2013-07-11 13:55:34 (UTC+8)
    摘要: We present rapid aneuploidy diagnosis of ring chromosome 2 with 2p25.3 and 2q37.3 microdeletions by aCGH using uncultured amniocytes in a fetus with IUGR, microcephaly, lissencephaly and ambiguous external genitalia. Our case adds lissencephaly to the list of CNS abnormalities in ring chromosome 2 with 2p25.3 and 2q37.3 microdeletions. We discuss the consequence of haploinsufficiency of HDAC4, KIF1A, PASK, HDLBP, FRAP2 and D2HGDH on 2q37.3, and haploinsufficiency of MYT1L, SNTG2 and TPO on 2p25.3 in this case.
    Copyright © 2013 Elsevier B.V. All rights reserved.
    關聯: GENE;519(1):164-8.
    显示于类别:[生物科技學系] 期刊論文

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