English  |  正體中文  |  简体中文  |  Items with full text/Total items : 90453/105672 (86%)
Visitors : 12095155      Online Users : 766
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/310904400/16531

    Title: Prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome derived from chromosome 8
    Authors: 陳持平;Chen, Chih-Ping;Chen, Ming;Ko, Tsang-Ming;Ma, Gwo-Chin;Tsai, Fuu-Jen;Tsai, Ming-Song;Wu, Pei-Chen;Lee, Chen-Chi;Che, Li-Feng;Wang, Wayseen
    Contributors: 生物科技學系
    Keywords: aCGH;chromosome 8;MLPA;prenatal diagnosis;SKY;small supernumerary marker chromosome
    Date: 2010-12
    Issue Date: 2012-11-23 17:14:18 (UTC+8)
    Abstract: "Objective
    To present prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome (sSMC) derived from chromosome 8 by multiplex ligation-dependent probe amplification (MLPA), fluorescence in situ hybridization (FISH), spectral karyotyping (SKY) and array comparative genomic hybridization (aCGH).

    Case Report
    A 42-year-old woman, gravida 6, para 3, underwent amniocentesis at 19 gestational weeks because of advanced maternal age. Amniocentesis revealed a de novo ring-shaped sSMC in all 13 colonies of the amniocytes. The karyotype was 47,XY,+mar. The MLPA showed duplications of 8p11.21-specific probes. At 24 gestational weeks, level II ultrasound revealed a left multicystic kidney in the fetus. Other internal organs were unremarkable. Repeat amniocentesis revealed a karyotype of 47,XY,+mar[25]/46,XY[2]. The sSMC was characterized by SKY and FISH, which showed a chromosome 8 origin of the sSMC. Oligonucleotide-based aCGH demonstrated a 4.4-Mb duplication of 8p11.21q11.1 [arr cgh 8p11.21q11.1 (42,637,263-47,062,180)×3]. The karyotype was 47,XY,+r(8) (p11.21q11.1)[25]/46,XY[2]. Polymorphic DNA marker analysis revealed no uniparental disomy for chromosome 8. The woman elected to continue the pregnancy and at 34 gestational weeks, a 1,820 g male baby without craniofacial dysmorphism was delivered. At the age of 1 month, the infant was apparently normal except for left multicystic kidney disease and mild ventriculomegaly.

    MLPA, SKY and aCGH are helpful in genetic counseling of prenatally detected sSMCs by providing the immediate information on the origin and the genetic contents of the sSMC."
    Relation: Taiwanese Journal of Obstetrics & Gynecology
    Appears in Collections:[生物科技學系] 期刊論文

    Files in This Item:

    File Description 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