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[为有唇腭裂患儿的父母提供遗传咨询]

[Genetic counseling of parents with children with clefts].

作者信息

Witkowski R, Opitz C

出版信息

Stomatol DDR. 1979 Nov;29(11):856-60.

PMID:296849
Abstract

The elucidation of the aetiology of the individual case has proved to be of fundamental importance to the counselling interview as well as to the assessment of the risk for further affected children. Up to now, a genetic cause in the form of chromosomal or gene mutations can be assumed only if the cleft is related to a distinct syndrome. An isolated cleft obviously owes its origin to a combination of genetic and extrinsic factors. Consequently, the assessment of the risk of repetition is to a great extent based on empirical values.

摘要

事实证明,查明个别病例的病因对于咨询面谈以及评估其他受影响儿童的风险至关重要。到目前为止,只有当腭裂与某种特定综合征相关时,才能假定存在染色体或基因突变形式的遗传原因。孤立性腭裂显然源于遗传因素和外部因素的共同作用。因此,复发风险的评估在很大程度上基于经验值。

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