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    题名: De novo unbalanced translocation resulting in monosomy for distal 5p (5p14.1->pter) and 14q (14q32.31->qter) associated with fetal nuchal edema, microcephaly, intrauterine growth restriction and single umbilical artery: prenatal diagnosis and molecular
    作者: 陳持平;Chen, Chih-Ping;Fu, Chung-Hu;Fu, Chung-Hu;Ch, Schu-Rern;Chern, Schu-Rern;Wu, Peih-Shan;Wu, Peih-Shan;Su, Jun-Wei;Su, Jun-Wei;Lee, Chen-Chi;Lee, Chen-Chi;Le, Meng-Shan;Lee, Meng-Shan;Wang, Wayseen;Wang, Wayseen
    贡献者: 生物科技學系
    关键词: 5p deletion;14q deletion;microcephaly;nuchal edema;single umbilical artery
    日期: 201309
    上传时间: 2013-10-29 17:36:39 (UTC+8)
    摘要: OBJECTIVE:
    To present prenatal diagnosis of partial monosomy 5p (5p14.1 → pter) and partial monosomy 14q (14q32.31 → qter).
    MATERIALS AND METHODS:
    A 33-year-old woman underwent amniocentesis at 20 weeks of gestation because of abnormal fetal ultrasound. Amniocentesis revealed a dicentric chromosome of dic(5;14). Level II ultrasound at 23 weeks of gestation revealed a fetus with intrauterine growth restriction, microcephaly, nuchal edema, a single umbilical artery, and fetal biometry equivalent to 19 weeks. At 23 weeks of gestation, she requested repeated amniocentesis. Whole-genome array comparative genomic hybridization on uncultured amniocytes was performed. Quantitative fluorescent polymerase chain reaction analysis was performed on uncultured cord blood and parental blood. A fetus was delivered with microcephaly, low-set ears, hypertelorism, depressed nasal bridge, increased nuchal fold, and a single umbilical artery.
    RESULTS:
    The fetal karyotype was 45,XX,dic(5;14)(p14.1;q32.31)dn. Whole-genome array comparative genomic hybridization analysis on uncultured amniocytes detected arr 5p15.33p14.1 (36,238-28,798,509)×1 and arr 14q32.31q32.33 (101,508,967-107,349,540)×1. Quantitative fluorescent polymerase chain reaction assays showed that the aberrant dic(5;14) was from paternal origin.
    CONCLUSION:
    Concomitant occurrence of monosomy for distal 5p and distal 14q my present nuchal edema, microcephaly, IUGR, and single umbilical artery on prenatal ultrasound.
    關聯: Taiwanese Journal of Obstetrics & Gynecology, 52(3):401-6.
    显示于类别:[生物科技學系] 期刊論文

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