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神经管缺陷的发生与遗传咨询

[Development of neural tube defects and genetic counseling].

作者信息

Canki N

出版信息

Jugosl Ginekol Opstet. 1984 May-Aug;24(3-4):45-8.

PMID:6503334
Abstract

The analysis of thirty-seven cases of neural tube defects (NTD) resulted in the following conclusions: a) At least eleven cases had the Arnold-Chiari malformation, an autosomal recessive disorder which often remains unrecognized; b) Trisomy 18 and amniotic disease associated with NTD were diagnosed in two newborns; c) In eight cases there was one or more older children with NTD; d) In two families the parents were related. A review of the literature and the exposed data indicate a heterogeneous etiology and an important role of genetic factors in the genesis of NTD.

摘要

对37例神经管缺陷(NTD)病例的分析得出以下结论:a)至少11例患有阿诺德 - 基亚里畸形,这是一种常未被识别的常染色体隐性疾病;b)两名新生儿被诊断出18三体综合征和与NTD相关的羊水疾病;c)8例中有一个或多个患有NTD的大龄儿童;d)两个家庭的父母有亲属关系。对文献和所呈现数据的回顾表明,NTD发生的病因具有异质性,且遗传因素起重要作用。

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