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    Please use this identifier to cite or link to this item: http://asiair.asia.edu.tw/ir/handle/310904400/108137


    Title: Molecular cytogenetic characterization of a duplication of 15q24.2-q26.2 associated with anencephaly and neural tube defect
    Authors: 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
    Contributors: 生物科技學系
    Date: 2017-08
    Issue Date: 2017-10-30 10:40:22 (UTC+8)
    Abstract: 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
    Relation: TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY
    Appears in Collections:[生物科技學系] 期刊論文

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