ASIA unversity:Item 310904400/25208
English  |  正體中文  |  简体中文  |  Items with full text/Total items : 90429/105609 (86%)
Visitors : 10576242      Online Users : 339
RC Version 6.0 © Powered By DSPACE, MIT. Enhanced by NTU Library IR team.
Scope Tips:
  • please add "double quotation mark" for query phrases to get precise results
  • please goto advance search for comprehansive author search
  • Adv. Search
    HomeLoginUploadHelpAboutAdminister Goto mobile version


    Please use this identifier to cite or link to this item: http://asiair.asia.edu.tw/ir/handle/310904400/25208


    Title: Prenatal diagnosis of ring chromosome 2 with lissencephaly and 2p25.3 and 2q37.3 microdeletions detected using array comparative genomic hybridization
    Authors: 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
    Contributors: 生物科技學系
    Date: 2013-04
    Issue Date: 2013-07-11 13:55:34 (UTC+8)
    Abstract: 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.
    Relation: GENE;519(1):164-8.
    Appears in Collections:[Department of Biotechnology] Journal Article

    Files in This Item:

    File SizeFormat
    index.html0KbHTML191View/Open


    All items in ASIAIR are protected by copyright, with all rights reserved.


    DSpace Software Copyright © 2002-2004  MIT &  Hewlett-Packard  /   Enhanced by   NTU Library IR team Copyright ©   - Feedback