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[色素沉着性母斑病的遗传咨询难点]

[Difficulties in genetic counseling in phakomatosis].

作者信息

Francois J

出版信息

J Genet Hum. 1975 Mar;23(1):17-27.

PMID:809545
Abstract

It is often difficult to establish a valid pedigree in a family, a member of which shows one or another phakomatosis. It is indispensable to examine all the members of the family in order to detect the "formes frustes" or the atypical and abortive forms, which are frequent, and in order to establish a genetic prognosis and to give a genetic counseling, taking the penetrance into account.

摘要

在一个有成员患有某种错构瘤病的家族中,往往很难建立起有效的谱系。为了检测常见的“顿挫型”或非典型及不完全型病例,以及考虑到外显率来进行遗传预后评估和提供遗传咨询,对家族所有成员进行检查是必不可少的。

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