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    Please use this identifier to cite or link to this item: http://asiair.asia.edu.tw/ir/handle/310904400/16486


    Title: Mosaic trisomy 9 at amniocentesis: prenatal diagnosis and molecular genetic analyses
    Authors: 陳持平;Chen, Chih-Ping;Lin, Hsien-Ming;Su, Yi-Ning;Chern, Schu-Rern;Tsai, Fuu-Jen;Wu, Pei-Chen;Lee, Chen-Chi;Chen, Yu-Ting;Lee, Meng-Shan;Pan, Chen-Wen;Wang, Wayseen
    Contributors: 生物科技學系
    Keywords: amniocentesis;mosaicism;mosaic trisomy 9;trisomy 9;uniparental disomy for chromosome 9
    Date: 2010-09
    Issue Date: 2012-11-23 17:13:44 (UTC+8)
    Abstract: Objective To present prenatal diagnosis and molecular genetic analyses of mosaic trisomy 9 Materials, Methods and Results A 35 year old woman, gravida 3, para 1, underwent amniocentesis at 17 weeks of gestation because of her advanced maternal age Amniocentesis revealed a karyotype of 47,XX,+9[3]/46,XX[6] Repeat amniocentesis at 19 weeks of gestation revealed a karyotype of 47,XX,+9[6]/46 XX[19] At 22 weeks of gestation, she was referred to a tertiary medical center for genetic counseling, and amniocentesis revealed a karyotype of 47,XX,+9[2]/46,XX[22] Array comparative genomic hybridization analysis of uncultured amniocytes revealed no genomic imbalance in chromosome 9 However, interphase fluorescence in situ hybridization analysis of uncultured amniocytes showed that nine (18%) of 50 cells were trisomic for chromo some 9 Polymorphic DNA marker analyses also revealed a diallelic pattern with unequal biparental inheritance of chromosome 9 and a dosage ratio of 1 18 (paternal allele maternal allele) in the uncultured amniocytes and a dosage ratio of 1 36 in the cultured amniocytes, indicating that the euploid cell line had maternal uniparental isodisomy for chromosome 9 Level II ultrasound demonstrated bilateral ventriculomegaly The pregnancy was subsequently terminated, and a malformed fetus was delivered Postnatal cytogenetic and polymorphic DNA marker analyses of the fetal and extraembryonic tissues confirmed the prenatal diagnosis Conclusion Mosaic trisomy 9 carries a high risk of fetal abnormalities warranting detailed sonographic investigation of congenital malformations Mosaic trisomy 9 can be associated with maternal uniparental disomy for chromosome 9 in euploid cell lines Array comparative genomic hybridization is limited for the detection of low level mosaicism.
    Relation: Taiwanese Journal of Obstetrics & Gynecology
    Appears in Collections:[生物科技學系] 期刊論文

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