English  |  正體中文  |  简体中文  |  Items with full text/Total items : 90120/105278 (86%)
Visitors : 9172942      Online Users : 802
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/310904400/25207


    Title: Prenatal diagnosis of recurrent autosomal dominant osteogenesis imperfecta associated with unaffected parents and paternal gonadal mosaicism
    Authors: 陳持平;Chen, Chih-Ping;Li, Shuan-Pei;Lin, Shuan-Pei;Su, Yi-Ning;Su, Yi-Ning;Ch, Schu-Rern;Chern, Schu-Rern;Su, Jun-Wei;Su, Jun-Wei;Wang, Wayseen;Wang, Wayseen
    Contributors: 生物科技學系
    Keywords: COL1A1;osteogenesis imperfecta;prenatal diagnosis;recurrence
    Date: 2013-03
    Issue Date: 2013-07-11 13:55:32 (UTC+8)
    Abstract: OBJECTIVE:
    To present the prenatal diagnosis of recurrent autosomal dominant osteogenesis imperfecta (OI) associated with unaffected parents and paternal gonadal mosaicism.
    MATERIALS AND METHODS:
    A 37-year-old woman was referred for genetic counseling at 18 weeks of gestation because of advanced maternal age and a family history of OI. The woman had a daughter who was affected with OI type III and carried an insertion frameshift mutation of c.4308_4309insA in exon 52 of the COL1A1 gene. The woman and her husband were non-consanguineous and healthy. Amniocentesis was performed at 18 weeks of gestation.
    RESULTS:
    Cytogenetic analysis revealed a karyotype of 46,XX. Molecular analysis of the amniocytes revealed a recurrent mutation of c.4308_4309insA in exon 52 of the COL1A1 gene. Mutational analysis of the family revealed no mutation of the COL1A1 gene in the parental bloods. However, mosaicism for the COL1A1 mutation was found in the paternal sperms. Level II ultrasound examination showed a curved right tibia, a narrow chest with irregular ribs and mild frontal bossing in the fetus. The parents decided to terminate the pregnancy, and a female fetus was delivered at 23 weeks of gestation with curved long bones.
    CONCLUSION:
    Recurrent autosomal dominant OI may occur in the offspring of unaffected parents with parental gonadal mosaicism. Genetic counseling of recurrent autosomal dominant OI should include a thorough mutational analysis of the family members, and mutational analysis of the sperm may detect paternal gonadal mosaicism for the mutation.
    Copyright © 2013. Published by Elsevier B.V.
    Relation: Taiwanese Journal of Obstetrics & Gynecology;52(1):106-9.
    Appears in Collections:[生物科技學系] 期刊論文

    Files in This Item:

    File SizeFormat
    index.html0KbHTML145View/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