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性连锁遗传性眼球震颤

Sex linked hereditary nystagmus.

作者信息

Rosenblum S F, Rosenblum J A

出版信息

Metab Pediatr Syst Ophthalmol (1985). 1987;10(4):103-6.

PMID:3441216
Abstract

Our present understanding of the genetics of hereditary nystagmus is somewhat limited. Few published medical sources have documented the existence of true cases of sex-linked hereditary nystagmus. In this paper, the authors present a case study of a patient whose nystagmus has a strong and exclusive male hereditary component. Genetic argumentation is presented in support of this conclusion. With greater understanding of the genetics, appropriate genetic counseling can be offered in reference to hereditary nystagmus.

摘要

我们目前对遗传性眼球震颤遗传学的了解在某种程度上是有限的。很少有已发表的医学资料记录过真正的性连锁遗传性眼球震颤病例的存在。在本文中,作者展示了一个病例研究,该患者的眼球震颤具有强烈且唯一的男性遗传成分。文中还提供了遗传学论证以支持这一结论。随着对遗传学有更深入的了解,就可以针对遗传性眼球震颤提供适当的遗传咨询。

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