English  |  正體中文  |  简体中文  |  Items with full text/Total items : 90453/105672 (86%)
Visitors : 12049844      Online Users : 129
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/310904400/25200

    Title: Prenatal diagnosis of partial trisomy 3q (3q27.3->qter) and partial monosomy 14q (14q31.3->qter) of paternal origin associated with fetal hypotonia, arthrogryposis, scoliosis and hyperextensible joints
    Authors: 陳持平;Chen, Chih-Ping;Cha, Yao-Lung;Chang, Yao-Lung;Ch, Schu-Rern;Chern, Schu-Rern;Wu, Peih-Shan;Wu, Peih-Shan;Su, Jun-Wei;Su, Jun-Wei;Chen, Wen-Lin;Chen, Wen-Lin;Chen, Li-Feng;Chen, Li-Feng;Wang, Wayseen;Wang, Wayseen
    Contributors: 生物科技學系
    Keywords: DLK1;MEG3;MEG8;Maternal uniparental disomy 14;RTL1;RTL1as
    Date: 2013-03
    Issue Date: 2013-07-11 13:55:20 (UTC+8)
    Abstract: We present rapid aneuploidy diagnosis of partial trisomy 3q (3q27.3→qter) and partial monosomy 14q (14q31.3→qter) of paternal origin by aCGH using uncultured amniocytes in a fetus with hypotonia, scoliosis, arthrogryposis, hyperextensible joints, facial dysmorphism, ventricular septal defect, pulmonary stenosis, clenched hands, clubfoot, scalp edema and right hydronephrosis. We discuss the genotype-phenotype correlation of 3q duplication syndrome and terminal 14q deletion syndrome. We demonstrate that fetuses with a paternal-origin deletion of 14q involving the 14q32.2 imprinted region may prenatally present the upd(14)mat-like phenotype such as hypotonia, scoliosis, arthrogryposis and hyperextensible joints.
    Copyright © 2012 Elsevier B.V. All rights reserved.
    Relation: GENE;516(1):132-7.
    Appears in Collections:[生物科技學系] 期刊論文

    Files in This Item:

    File SizeFormat

    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