21号染色体镶嵌性六体性
Mosaic hexasomy 21.
作者信息
Ketupånyå A, Crandåll B F, Blanchard K, Rogers D W
出版信息
J Med Genet. 1984 Jun;21(3):228-30. doi: 10.1136/jmg.21.3.228.
Abstract
Cases in which there are more than three copies of a sex chromosome, and rarely of an autosome, have been reported, but to our knowledge hexasomy has never been described except in tissue undergoing neoplastic change. This report describes a female infant with multiple malformations in whom we found a mosaic hexasomy 21. This was first detected in amniotic fluid cells and subsequently in skin fibroblasts.
摘要
已有报道称存在性染色体有三份以上拷贝的情况，常染色体出现这种情况则较为罕见，但据我们所知，除了发生肿瘤变化的组织外，从未有过六体性的描述。本报告描述了一名患有多种畸形的女婴，我们在其体内发现了嵌合型21号染色体六体性。这一情况首先在羊水细胞中被检测到，随后在皮肤成纤维细胞中也被发现。
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