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21三体综合征中额外染色体的起源。

Origin of the extra chromosome in trisomy 21.

作者信息

Mattei J F, Mattei M G, Ayme S, Giraud F

出版信息

Hum Genet. 1979 Jan 19;46(1):107-10. doi: 10.1007/BF00278908.

Abstract

Of 61 families of children with trisomy 21, polymorphism of chromosome 21 elucidating the origin of the extra chromosome was found in 42. Nondisjunction was of paternal origin in 8 cases (19.04%) and the anomaly occurred with equal frequency during the first and second meiotic divisions. Maternal nondisjunction was demonstrated in 34 cases (80.95%), in which nondisjunction occurred by far the most often during the first meiotic division (29 cases). These results are in agreement with data from the literature, and suggest the existence of at least two different causes for chromosomal nondisjunction, the first being the same in both sexes and occurring in both meiotic divisions and the second specifically limited to the first meiotic division in the mother.

摘要

在61个21三体综合征患儿家庭中,42个家庭发现了21号染色体多态性,从而阐明了额外染色体的来源。8例(19.04%)为父源性不分离,且在第一次减数分裂和第二次减数分裂期间发生异常的频率相同。34例(80.95%)为母源性不分离,其中绝大多数(29例)发生在第一次减数分裂期间。这些结果与文献数据一致,提示染色体不分离至少存在两种不同原因,第一种在两性中相同,且在两次减数分裂中均会发生,第二种则特别局限于母亲的第一次减数分裂。

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