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    Please use this identifier to cite or link to this item: http://asiair.asia.edu.tw/ir/handle/310904400/16485


    Title: Mosaic trisomy 7 at amniocentesis: prenatal diagnosis and molecular genetic analyses
    Authors: 陳持平;Chen, Chih-Ping;Su, Yi-Ning;Chern, Schu-Rern;Hwu, Yu-Ming;Lin, Shuan-Pei;Hsu, Chyong-Hsin;Tsai, Fuu-Jen;Wang, Tao-Yeuan;Wu, Pei-Chen;Lee, Chen-Chi;Chen, Yu-Ting;Chen, Li-Feng;Wang, Wayseen
    Contributors: 生物科技學系
    Keywords: Amniocentesis;Mosaicism;Mosaic trisomy 7;Trisomy 7;Uniparental disomy for chromosome 7
    Date: 2010-09
    Issue Date: 2012-11-23 17:13:43 (UTC+8)
    Abstract: Objective To present prenatal diagnosis and molecular genetic analyses of mosaic trisomy 7 Materials, Methods and Results A 38 year old primigravid woman underwent amniocentesis at 19 weeks of gestation because of her advanced maternal age Amniocentesis revealed a karyotype of 47,XY,+7[26]/ 46 XY[161 Repeated amniocentesis at 21 weeks of gestation revealed a karyotype of 47,XY,+7[20]/46,XY[17] Simultaneous cordocentesis revealed a karyotype of 46,XY in 100/100 cultured lymphocytes Polymorphic DNA marker analyses of uncultured amniocytes and cord blood revealed a diallelic pattern with seemingly equal biparental inheritance of chromosome 7 Repeated cordocentesis and chorionic villus sampling at 23 weeks of gestation revealed a karyotype of 47,XY,+7[2]/46,XY[661 in cord blood and a karyotype of 47,XY,+7 in 24/24 cultured chorionic villi cells Level II ultrasonography was normal At 40 weeks of gestation, a 2,708 g normal male baby was delivered The peripheral blood had a karyotype of 46,XY in 100/ 100 lymphocytes Molecular analyses of placenta, urine, buccal swab, and peripheral blood revealed a diallelic pattern and seemingly equal biparental inheritance of chromosome 7 in all tissues At 3 months of age, he manifested hypopigmented skin and inguinal hernia, but showed normal growth and mental development Fluorescence in situ hybridization analysis of inguinal hernia sac tissue revealed that 19/100( 19%) of nuclei had three chromosome 7 signals Conclusion Mosaic trisomy 7 at amniocentesis may be derived from a cell culture artifact from an undetected low level of trisomy 7 mosaicism in uncultured amniocytes and can be associated with favorable fetal outcome if the blood has a normal karyotype or a very low level of mosaicism and if uniparental disomy for chromosome 7 is excluded.
    Relation: Taiwanese Journal of Obstetrics & Gynecology
    Appears in Collections:[生物科技學系] 期刊論文

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