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[唐氏综合征患儿家庭中额外一条21号染色体的起源]

[The origin of an extra chromosome 21 in families of children with Down syndrome].

作者信息

Davidenkova E F, Butomo I V, Kovaleva N V

出版信息

Genetika. 1988 Sep;24(9):1671-8.

PMID:2974006
Abstract

These are the first studies on the origin of nondisjunction of trisomy 21 in the USSR. Parental contribution was established in 84 of 140 families observed. In 66% cases the nondisjunction took place in oogenesis and in 34% cases - in spermatogenesis. Among the children, who inherited the additional chromosome from father, boys predominate. Compilative work on all the data available concerning the origin of the 21 nondisjunction has been performed; the factors favouring nondisjunction in I and II mitotic divisions in female meiosis, both genetical and age-dependent, have been considered. The great importance of the disturbances taking place in spermatogenesis for etiology is emphasized. It is proved that somatic hyperploidy does not serve as an indicator of predisposition for chromosome nondisjunction in meiosis.

摘要

这些是苏联对21三体不分离起源的首批研究。在观察的140个家庭中的84个家庭确定了亲代的贡献。在66%的病例中,不分离发生在卵子发生过程中,在34%的病例中——发生在精子发生过程中。在从父亲那里继承了额外染色体的孩子中,男孩占多数。已对所有关于21号染色体不分离起源的现有数据进行了汇总研究;已考虑了在女性减数分裂的第一次和第二次有丝分裂中有利于不分离的遗传和年龄相关因素。强调了精子发生过程中发生的紊乱对病因学的重要性。已证明体细胞超倍体不作为减数分裂中染色体不分离易感性的指标。

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