Three different, non-mosaic sex chromosome abnormalities (direct cytotrophoblasts, mesenchymal core cultures, and abortus skin fibroblasts): implications for elucidating chorionic villi mosaicism.
Three different, non-mosaic sex chromosome abnormalities (direct cytotrophoblasts, mesenchymal core cultures, and abortus skin fibroblasts): implications for elucidating chorionic villi mosaicism.
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三种不同的非嵌合性染色体异常（直接细胞滋养层、间充质核心培养物和流产皮肤成纤维细胞）：对阐明绒毛膜绒毛嵌合现象的影响。
DOI：
10.1136/jmg.26.12.791
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发表时间：
1989
影响因子：
4
通讯作者：
Elias,S
中科院分区：
文献类型：
--
作者：
Shulman,LP;Tharapel,AT;Simpson,JL;Meyers,CM;Tucker,B;Weisskopf,B;Elias,S
短报告显示，培养的间充质核心细胞产生的20个中期显示出45x的补体（图b）。双亲染色体分析正常。先证者被告知，结果表明胎儿表现出特纳综合征表型的可能性“很高”。因此，超声检查和羊膜穿刺术被推荐用于评估间隔期胎儿生长和确定羊水细胞的染色体补体。然而，既没有选择超声检查，也没有选择羊膜穿刺术，而是选择了终止妊娠。令人惊讶的是，对培养的流产皮肤成纤维细胞的30个中期的染色体分析显示了第三种非镶嵌补体：表面上为46，X, del (X)（pl1）。2)(图c)。
Short reports20 metaphases derived from the cultured mesenchymal core cells showed a 45, X complement (figure b). Chromosome analyses of both parents were normal. The proband was counselled that results indicated a'high'likelihood of the fetus manifesting the Turner's syndrome phenotype. Ultrasonography and amniocentesis were thus recommended to evaluate interval fetal growth and to determine the chromosome complement of amniotic fluid cells. However, neither ultrasonography nor amniocentesis was chosen, but rather pregnancy termination. Surprisingly, chromosome analysis of 30 metaphases from cultured abortus skin fibroblasts showed yet a third non-mosaic complement: ostensibly 46, X, del (X)(pl1. 2)(figure c).