Hultén Ma, E. Iwarsson, J. Jonasson
{"title":"Commentary: \"The Etiology of Down Syndrome\"","authors":"Hultén Ma, E. Iwarsson, J. Jonasson","doi":"10.29245/2690-0009/2019/1.1102","DOIUrl":null,"url":null,"abstract":"©2019 Hultén MA. This article is distributed under the terms of the Creative Commons Attribution 4.0 International License. It is well known that most Down Syndrome cases are of maternal origin, and that the likelihood of having a child with Trisomy 21 increases with maternal age. We have now tested the possibility that the extra chromosome in Trisomy 21 Down syndrome may be due to a segregation problem, taking place during fetal mitotic oogonial cell divisions. In this context, we have analysed the chromosome constitution in 27150 pre-meiotic oogonia from 26 fetal ovarian samples with FISH technique and found that the incidence of Trisomy 21 cell nuclei is raised at later stages of fetal oogonial development. This feature can possibly explain the maternal age effect.","PeriodicalId":127978,"journal":{"name":"Journal of Human and Clinical Genetics","volume":"6 16 1","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"2019-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Human and Clinical Genetics","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.29245/2690-0009/2019/1.1102","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
评论:《唐氏综合症的病因学》
©2019 hultvac。本文在知识共享署名4.0国际许可协议下发布。众所周知,大多数唐氏综合症病例是由母亲引起的,而且随着母亲年龄的增长,孩子患21三体的可能性也会增加。我们现在已经测试了21三体唐氏综合症中额外的染色体可能是由于分离问题,发生在胎儿有丝分裂卵原细胞分裂期间。在这种情况下,我们用FISH技术分析了来自26个胎儿卵巢样本的27150个减数分裂前卵原细胞的染色体构成,发现21三体细胞核的发生率在胎儿卵原细胞发育的后期阶段升高。这一特征或许可以解释母亲的年龄效应。
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