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[先天性发育缺陷诊断在病理学家实践中的重要性]

[Importance of the diagnosis of congenital developmental defects in the practice of pathologists].

作者信息

Laziuk G I

出版信息

Arkh Patol. 1980;42(7):24-8.

PMID:7417019
Abstract

Composite studies of 1286 stillborns and infants with congenital malformations (CMF) dying at the age under 1 year conducted in the Teratological Center of Minsk showed that in specialized therapeutic institutions the causes of CMF could be established in at least 70% of the cases. In the infant autopsy materials, 12% of CMF were associated with chromosome pathology, 17% with single gene mutations, over 40% had multifactor determinants and 2.7% were due to teratogenic effects.

摘要

明斯克畸形学中心对1286例死产儿和1岁以下患有先天性畸形(CMF)的婴儿进行的综合研究表明,在专业治疗机构中,至少70%的病例能够确定CMF的病因。在婴儿尸检材料中,12%的CMF与染色体病理相关,17%与单基因突变相关,超过40%有多种因素决定,2.7%是由致畸作用导致的。

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