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无手足畸形(巴西的无手无足家族)的遗传学。IX. 遗传咨询。

Genetics of acheiropodia (the handless and footless families of Brazil). IX. Genetic counseling.

作者信息

Freire-Maia A, Freire-Maia N, Schull W J

出版信息

Hum Hered. 1975;25(4):329-36. doi: 10.1159/000152743.

Abstract

Acheiropodia offers no special problem of a counseling nature. The genetic risk can be easily estimated since the anomaly is due to a rare autosomal recessive gene with complete penetrance and little variation in expression. However, considering that acheiropod individuals have a tremendous handicap (they are born without both hands and feet), it is remarkable how they overcome this difficulty and lead an almost 'normal' life. Several examples are given in this paper. The 'philosophy' of genetic counseling is briefly discussed; emphasis is placed upon the necessity for the geneticist to present the good perspectives, while preparing the consultand for the worst. Even in this last possibility, however, not everything is necessarily lost as the example of the acheiropods attests.

摘要

无手足畸形不存在特殊的咨询性质问题。由于该异常是由一种罕见的常染色体隐性基因引起,具有完全外显率且表达变异小,因此遗传风险很容易估计。然而,考虑到无手足畸形个体有极大的残疾(他们出生时就没有双手和双脚),他们如何克服这一困难并过上几乎“正常”的生活是很值得注意的。本文给出了几个例子。文中简要讨论了遗传咨询的“理念”;强调遗传学家在为咨询者做好最坏打算的同时,也要展现良好前景的必要性。然而,即便在这最后一种可能性中,无手足畸形者的例子证明,也并非一切都必然失去。

相似文献

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The handless and footless families of Brazil.巴西的无手无脚家庭。
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The handless and footless families of Brazil.巴西的无手无脚家庭。
Lancet. 1970 Oct 3;2(7675):727-8. doi: 10.1016/s0140-6736(70)92004-0.

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