一名正常儿童的21号染色体母源单亲二体。
Maternal uniparental disomy of chromosome 21 in a normal child.
作者信息
Rogan P K, Sabol D W, Punnett H H
机构信息
Department of Human Genetics, MCP Hahnemann University, Pittsburgh, Pennsylvania, USA.
出版信息
Am J Med Genet. 1999 Mar 5;83(1):69-71. doi: 10.1002/(sici)1096-8628(19990305)83:1<69::aid-ajmg14>3.0.co;2-q.
Abstract
Maternal uniparental disomy of chromosome 21 [upd(21)mat] was found previously in a normal female and in 2 cases of early embryonic failure. We present a phenotypically normal child with upd(21)mat due to a de novo der(21;21)(q10;10). This finding suggests that chromosome 21 is not imprinted in the maternal germline.
摘要
先前在一名正常女性以及2例早期胚胎停育病例中发现了母源21号染色体单亲二倍体[upd(21)mat]。我们报告了一名因新发der(21;21)(q10;10)而患有upd(21)mat的表型正常儿童。这一发现表明21号染色体在母系生殖细胞中没有印记。
Zotero 插件