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[先天性发育缺陷的主要病因分类以及诊断和死因形成问题]

[The main etiologic groups of congenital developmental defects and the problems of diagnosis and thanatogenesis].

作者信息

Laziuk G I, Cherstvoĭ E D

出版信息

Arkh Patol. 1986;48(9):20-5.

PMID:2947555
Abstract

The proportion of congenital developmental defects (CDD) in children decreased in perinatal or early age is increasing. According to national and foreign data this figure is in the range of 21-41%. The etiologic structure of CDD for the last 5 years (1980-1984) basing on the data from the Minsk Teratologic Center has not practically changed. As in the previous 5 years, 50.8% of CDD belong to multifactorial ones, 14.3% are due to single gene mutations (8.4% of them are inherited according to dominant type and 5.9%--according to recessive type). Chromosome and gene mutations caused 7.9% of CDD. About 2% of CDD are induced by the effect of environmental factors on the embryo (less frequently on the fetus). Etiology of 25.1% of CDD is not clear.

摘要

围产期或儿童早期先天性发育缺陷(CDD)的比例正在上升。根据国内外数据,这一比例在21%-41%之间。根据明斯克致畸学中心的数据,过去5年(1980-1984年)CDD的病因结构实际上没有变化。与前5年一样,50.8%的CDD属于多因素缺陷,14.3%是由单基因突变引起的(其中8.4%按显性类型遗传,5.9%按隐性类型遗传)。染色体和基因突变导致7.9%的CDD。约2%的CDD是由环境因素对胚胎(较少情况下对胎儿)的影响引起的。25.1%的CDD病因不明。

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