来自患有21号染色体三体嵌合体的母亲的3个同胞出现常规的21号染色体三体。
Regular G21-trisomy in 3 sibs from mother with trisomy 21 mosaicism.
作者信息
Osuna A, Moreno A
出版信息
J Med Genet. 1977 Aug;14(4):286-7. doi: 10.1136/jmg.14.4.286.
Abstract
This paper describes a family with 3 affected sibs with regular trisomy 21 Down syndrome. The condition seems to be transmitted from a phenotypically normal mother in whom G-trisomy mosaicism was identified. Giemsa banding depicted trisomy 21 mosaicism in cells from the mother. Chromosomes from the children showed a trisomy 21 in all the cells analysed.
摘要
本文描述了一个患有21号染色体三体性唐氏综合征的三口之家。这种疾病似乎是由一位表型正常的母亲遗传而来，在这位母亲身上发现了G三体性嵌合体。吉姆萨染色显示母亲细胞中存在21号染色体三体性嵌合体。孩子们的染色体在所有分析的细胞中均显示为21号染色体三体。
Zotero 插件