ASIA unversity:Item 310904400/108137
English  |  正體中文  |  简体中文  |  全文笔数/总笔数 : 90096/105238 (86%)
造访人次 : 7215654      在线人数 : 547
RC Version 6.0 © Powered By DSPACE, MIT. Enhanced by NTU Library IR team.
搜寻范围 查询小技巧:
  • 您可在西文检索词汇前后加上"双引号",以获取较精准的检索结果
  • 若欲以作者姓名搜寻,建议至进阶搜寻限定作者字段,可获得较完整数据
  • 进阶搜寻


    jsp.display-item.identifier=請使用永久網址來引用或連結此文件: http://asiair.asia.edu.tw/ir/handle/310904400/108137


    题名: Molecular cytogenetic characterization of a duplication of 15q24.2-q26.2 associated with anencephaly and neural tube defect
    作者: 陳持平;Chih-Ping Chen;Chen-Yu Chen;Schu-Rern Ch;Schu-Rern Chern;Peih-Shan Wu;Shin-Wen Che;Shin-Wen Chen;Shih-Ting La;Shih-Ting Lai;Chen-Chi Lee;Chien-Wen Ya;Chien-Wen Yang;Wayseen Wang
    贡献者: 生物科技學系
    日期: 2017-08
    上传时间: 2017-10-30 10:40:22 (UTC+8)
    摘要: Objective

    We present molecular cytogenetic characterization of a duplication of 15q24.2-q26.2 associated with anencephaly and neural tube defect (NTD).
    Case Report

    A 35-year-old pregnant woman was found to have a fetus with anencephaly by prenatal ultrasound at 12 weeks of gestation. The pregnancy was subsequently terminated, and a malformed fetus was delivered with anencephaly. Cytogenetic analysis of the cultured placental tissues revealed a karyotype of 46,XX,dup(15) (q24.2q26.2). Parental karyotypes were normal. Array comparative genomic hybridization analysis of the placental tissues revealed a 20.36-Mb duplication of 15q24.2-q26.2 encompassing 100 Online Mendelian Inheritance of in Man (OMIM) genes including LINGO1, MTHFS, KIF7 and CHD2. Metaphase fluorescence in situ hybridization analysis using 15q25.1-specidic probe confirmed a duplication of 15q25.1. Polymorphic DNA marker analysis showed a maternal origin of the duplication.

    Conclusion

    A duplication of chromosome 15q24.2-q26.2 can be associated with NTD.
    Keywords
    15q24.2-q26.2 duplicationAnencephalyNeural tube defectPartial trisomy 15q
    關聯: TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY
    显示于类别:[生物科技學系] 期刊論文

    文件中的档案:

    档案 大小格式浏览次数
    index.html0KbHTML125检视/开启


    在ASIAIR中所有的数据项都受到原著作权保护.


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