ASIA unversity:Item 310904400/8209
English  |  正體中文  |  简体中文  |  全文笔数/总笔数 : 94286/110023 (86%)
造访人次 : 21653807      在线人数 : 222
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/310904400/8209


    题名: UNBALANCED AND BALANCED ACROCENTRIC REARRANGEMENTS INVOLVING CHROMOSOMES OTHER THAN CHROMOSOME 21 AT AMNIOCENTESIS
    作者: Chen, CP (Chen, Chih-Ping);Chern, SR (Chern, Schu-Rern);Wu, PC (Wu, Pei-Chen);Tsai, FJ (Tsai, Fuu-Jen);Lee, CC (Lee, Chen-Chi);Town, DD (Town, Dai-Dyi);Chen, WL (Chen, Wen-Lin);Chen, LF (Chen, Li-Feng);Lee, MS (Lee, Meng-Shan);Pan, CW (Pan, Chen-Wen);Wang, WS (Wang, Wayseen)
    贡献者: Department of Biotechnology
    关键词: acrocentric rearrangements;amniocentesis;Robertsonian translocation;trisomy 13;uniparental disomy
    日期: 2009-12
    上传时间: 2010-03-26 02:29:03 (UTC+0)
    出版者: Asia University
    摘要: Objective: To investigate unbalanced and balanced acrocentric rearrangements involving chromosomes other than chromosome 21 at amniocentesis.
    Materials and Methods: From January 1987 to September 2009, 31,194 amniocenteses were performed at Mackay Memorial Hospital, Taipei, Taiwan. Two cases with unbalanced acrocentric rearrangements involving chromosomes other than chromosome 21 from two families, and 24 cases with balanced acrocentric rearrangements involving chromosomes other than chromosome 21 from 21 families were diagnosed and investigated.
    Results: We detected i(13q13q), +13 (one case), rob(13q14q), +13 (one case), rob(13q14q) (16 cases), rob(14q15q) (five cases), rob(13q15q) (one case), rob(15q22q) (one case), and mosaic rob(14q22q) (one case). Of the 25 cases that underwent parental cytogenetic investigation, six arose de novo and 19 were inherited (10 maternal and nine paternal). The 16 families with an inherited Robertsonian translocation included rob(13q14q) (11 families), rob(14q15q) (four families), and rob(15q22q) (one family). Of these 16 families, only two had known parental carrier status prior to the First amniocentesis, while the other 14 were aware of a parental carrier status only after prenatal diagnosis of a fetus with a heterologous Robertsonian translocation. The 18 fetuses with balanced heterologous Robertsonian translocations inherited them from six maternal carriers of rob(13q14q), four paternal carriers of rob(13q14q), four paternal carriers of rob(14q15q), and one maternal carrier of rob(15q22q). Neither UPD14 nor UPD15 was detected in any of the 16 cases tested for UPD.
    Conclusion: Concerning acrocentric rearrangements involving chromosomes other than chromosome 21, we found a frequency of 0.0064% for unbalanced rearrangements and 0.0769% for balanced rearrangements at amniocentesis in this study. rob(13q14q) was the most common and rob(14q15q) the second most common rearrangement. Of the families with an inherited translocation, 87.5% were aware of parental carrier status only after prenatal diagnosis of a fetus with a translocation by amniocentesis. [Taiwan J Obstet Gynecol 2009;48(4): 389-399]
    關聯: TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY 48 (4): 389-399
    显示于类别:[生物科技學系] 期刊論文

    文件中的档案:

    档案 描述 大小格式浏览次数
    42.doc45KbMicrosoft Word515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