间期荧光原位杂交技术在未经培养的羊水中对胎儿宫内生长受限和小头畸形妊娠中低水平7号染色体三体镶嵌现象进行快速确诊的实用性。 - Suppr | 超能文献

Usefulness of interphase FISH on uncultured amniocytes for rapid confirmation of low-level trisomy 7 mosaicism in a pregnancy with fetal intrauterine growth restriction and microcephaly.

作者信息

Chen Chih-Ping, Su Yi-Ning, Chen Yi-Yung, Chern Schu-Rern, Su Jun-Wei, Chen Yu-Ting, Town Dai-Dyi, Wang Wayseen

机构信息

Department of Medicine, Mackay Medical College, New Taipei City, Taiwan.

出版信息

Taiwan J Obstet Gynecol. 2012 Sep;51(3):471-4. doi: 10.1016/j.tjog.2012.07.034.

DOI:10.1016/j.tjog.2012.07.034

Abstract

摘要

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Prenatal diagnosis of a trisomy 7 mosaic case: CMA, CNV-seq, karyotyping, interphase FISH, and MS-MLPA, which technique to choose?7号染色体三体嵌合病例的产前诊断：比较基因组杂交（CMA）、拷贝数变异测序（CNV-seq）、核型分析、间期荧光原位杂交（FISH）和甲基化特异性多重连接探针扩增技术（MS-MLPA），该选择哪种技术？

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