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[遗传咨询:次要问题会变成主要问题吗?]

[Genetic counseling: should side issues become main issues?].

作者信息

van Langen I M, Aalfs C M, Smets E M, de Haes J C, Jansweijer M C, Leschot N J

机构信息

Afd. Klinische Genetica, Universiteit van Amsterdam/Academisch Medisch Centrum.

出版信息

Ned Tijdschr Geneeskd. 1997 Sep 20;141(38):1801-4.

PMID:9545732
Abstract

Three people applied for genetic counselling, but during the consultations the clinical geneticist discovered other problems for which advice could have been given but was not asked. This caused a serious dilemma. The first person was a woman who wanted to know the risks of epilepsy for her potential offspring, but then it became clear that she appeared to have Huntington's disease in the family. The second person was a man who wanted to know about the genetic risks for his offspring of a borderline psychiatric disorder, but the geneticist, seeing that the partner had severe limb defects, wondered whether these were caused by a genetic disorder. The third patient was a pregnant woman who came asking about the risks caused by mental retardation in one of her ancestors, but who appeared to be a heavy drinker and user of cocaine and ecstasy. In dealing with such 'secondary' problems, it should be kept in mind that persons seeking advice must decide for themselves whether or not they want to be informed regarding these problems or not.

摘要

有三人申请了遗传咨询,但在咨询过程中,临床遗传学家发现了其他一些本可提供建议但未被询问的问题。这引发了一个严重的困境。第一个人是一名女性,她想了解自己潜在后代患癫痫的风险,但后来发现她的家族中似乎有人患有亨廷顿舞蹈症。第二个人是一名男性,他想了解自己患有边缘性精神障碍的后代的遗传风险,但遗传学家发现其伴侣有严重的肢体缺陷,怀疑这是否由遗传疾病引起。第三位患者是一名孕妇,她来询问其一位祖先智力迟钝所带来的风险,但她似乎酗酒且吸食可卡因和摇头丸。在处理这类“次要”问题时,应牢记寻求建议的人必须自行决定是否希望了解这些问题。

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