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唐氏综合征中额外染色体的起源:对20个家庭的研究

Origin of the additional chromosome in Down's syndrome: a study of 20 families.

作者信息

Roberts D F, Callow M H

出版信息

J Med Genet. 1980 Oct;17(5):363-7. doi: 10.1136/jmg.17.5.363.

Abstract

In 20 families with a Down's syndrome child, heteromorphism of chromosome 21 was sought in the parents and proband. Information on the meiotic division and the parent of origin was given in 16 families, the majority of errors being maternal in origin, predominantly at meiosis I, though the paternal contribution is also appreciable. Probabilities of parental and meiotic division origin are calculated.

摘要

在20个有唐氏综合征患儿的家庭中,对患儿父母及先证者进行了21号染色体异态性研究。16个家庭提供了减数分裂及起源亲本的信息,多数错误起源于母方,主要发生在减数第一次分裂,不过父方的影响也相当明显。计算了亲本及减数分裂起源的概率。

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