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[唐氏综合征患儿父母中近端着丝粒染色体的关联(文献综述)]

[The associations of acrocentric chromosomes in the parents of Down's syndrome children (a review of the literature)].

作者信息

Kovaleva N V

出版信息

Tsitologiia. 1991;33(6):3-11.

PMID:1840366
Abstract

A point of view has been recently maintained that, as data are accumulated, the role of the association activity as a cause of acrocentric chromosome nondisjunction is not confirmed. Data are reviewed concerning all the studies available in the literature on the frequency and pattern of acrocentric associations in parents of the Down's syndrome patients. From these data it is evident that the nucleolar organizing activity is an important factor in etiology of trisomy 21. Reasons of some negative results occasionally reported are discussed.

摘要

最近有一种观点认为,随着数据的积累,联合活动作为近端着丝粒染色体不分离原因的作用并未得到证实。本文回顾了文献中所有关于唐氏综合征患者父母近端着丝粒联合频率和模式的研究数据。从这些数据可以明显看出,核仁组织活动是21三体病因中的一个重要因素。文中还讨论了偶尔报道的一些阴性结果的原因。

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