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    ASIA unversity > 管理學院 > 國際企業學系 > 期刊論文 >  Item 310904400/79793


    Please use this identifier to cite or link to this item: http://asiair.asia.edu.tw/ir/handle/310904400/79793


    Title: Mosaic tetrasomy 9p at amniocentesis: prenatal diagnosis, molecular cytogenetic characterization and literature review
    Authors: Chih-Ping Chen;Liang-Kai Wang;Schu-Rern Chern;Peih-Shan Wug, Yu-Ting Chen;Yu-Ling Kuo;Wen-Lin Chen;Meng-Shan Lee;Wayseen Wang
    Contributors: 生物科技學系
    Keywords: amniocentesis;mosaicism;supernumerary isochromosome 9p;tetrasomy 9p
    Date: 2014-03
    Issue Date: 2014-06-05 12:09:44 (UTC+8)
    Abstract: Objective
    This study was aimed at prenatal diagnosis of mosaic tetrasomy 9p and reviewing the literature.

    Materials and methods
    A 37-year-old woman underwent amniocentesis at 20 weeks' gestation because of advanced maternal age and fetal ascites. Cytogenetic analysis of cultured amniocytes revealed 21.4% (6/28 colonies) mosaicism for a supernumerary i(9p). Repeat amniocentesis was performed at 23 weeks' gestation. Array comparative genomic hybridization, interphase fluorescence in situ hybridization, and quantitative fluorescent polymerase chain reaction were applied to uncultured amniocytes, and conventional cytogenetic analysis was applied to cultured amniocytes.

    Results
    Array comparative genomic hybridization analysis of uncultured amniocytes detected a genomic gain at 9p24.3–9q21.11. Interphase fluorescence in situ hybridization analysis of uncultured amniocytes using a 9p24.3-specific probe RP11-31F19 (spectrum red) showed four red signals in 47.1% (49/104 cells) in uncultured amniocytes. Cytogenetic analysis of cultured amniocytes revealed a karyotype of 47,XX, +idic(9)(pter→q21.11::q21.11→pter)[4]/46,XX[20] and 16.7% (4/24 colonies) mosaicism for tetrasomy 9p. Quantitative fluorescent polymerase chain reaction confirmed a maternal origin of tetrasomy 9p. The pregnancy was terminated, and a malformed fetus was delivered with hydrops fetalis and facial dysmorphism. The fetal blood cells had 32.5% (13/40 cells) mosaicism for tetrasomy 9p.

    Conclusion
    Mosaic tetrasomy 9p at amniocentesis can be associated with fetal ascites and hydrops fetalis. The mosaic level of tetrasomy 9p may decrease after long-term tissue culture in amniocytes in case of mosaic tetrasomy 9p.
    Relation: Taiwanese Journal of Obstetrics & Gynecology,53(1),79–85.
    Appears in Collections:[國際企業學系] 期刊論文

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