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    题名: Mosaic trisomy 22 at amniocentesis: prenatal diagnosis and literature review
    作者: 陳持平;Chen, Chih-Ping;Hu, Ming-Chao;Huang, Ming-Chao;Ch, Schu-Rern;Chern, Schu-Rern;Wu, Peih-Shan;Wu, Peih-Shan;Che, Shin-Wen;Chen, Shin-Wen;Chua, Tzu-Yun;Chuang, Tzu-Yun;Town, Dai-Dyi;Town, Dai-Dyi;Wang, Wayseen;Wang, Wayseen
    贡献者: 醫學檢驗暨生物技術學系
    关键词: AmniocentesisMosaic trisomy 22Prenatal diagnosisUltrasound
    日期: 2019-09
    上传时间: 2020-08-21 08:06:07 (UTC+0)
    出版者: 亞洲大學
    摘要: Objective
    We present prenatal diagnosis of mosaic trisomy 22 at amniocentesis in a pregnancy with facial cleft, oligohydramnios and intrauterine growth restriction (IUGR), and we review the literature.

    Case report
    A 37-year-old woman underwent amniocentesis at 19 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 47,XX,+22[9]/46,XX[9]. Array comparative genomic hybridization (aCGH) analysis on uncultured amniocytes showed a result of arr(22) × 3 [0.8]. Prenatal ultrasound revealed fetal median facial cleft, oligohydramnios and IUGR. Repeat amniocentesis at 22 weeks of gestation using uncultured amniocytes revealed an aCGH result of arr 22q11.1q13.33 (17,397,498–51,178,264) × 2.8 compatible with 80% mosaicism for trisomy 22, and a fluorescence in situ hybridization (FISH) result of mosaic trisomy 22 with trisomy 22 in 54/100 interphase cells. The cultured amniocytes at repeat amniocentesis had a karyotype of 47,XX,+22[12]/46,XX[8]. The parental karyotypes were normal. Polymorphic DNA marker analysis confirmed a maternal origin of the extra chromosome 22. The pregnancy was terminated, and a 256-g female fetus was delivered with facial dysmorphism and median facial cleft. Cytogenetic analysis of the skin fibroblasts revealed a karyotype of 47,XX,+22[33]/46,XX[7].

    Conclusion
    Fetuses with high level mosaicism for trisomy 22 at amniocentesis may present IUGR, facial cleft and oligohydramnios on prenatal ultrasound.
    關聯: TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY
    显示于类别:[醫學檢驗暨生物技術學系] 期刊論文

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