脆性X综合征：一种导致家族性智力残疾的不断增加的基因。

The fragile-X syndrome: a growing gene causing familial intellectual disability.

作者信息

De Vries L B, Halley D J, Oostra B A, Niermeijer M F

机构信息

Department of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands.

出版信息

J Intellect Disabil Res. 1994 Feb;38 ( Pt 1):1-8. doi: 10.1111/j.1365-2788.1994.tb00342.x.

DOI:10.1111/j.1365-2788.1994.tb00342.x

PMID:8173220

Abstract

The fragile-X syndrome is the most common cause of familial intellectual disability. Recently, the gene related to the fragile-X syndrome [the 'fragile-X mental retardation'-1 (FMR-1) gene] has been isolated. In this review, clinical and molecular aspects of the fragile-X syndrome, current benefits and future prospects are discussed.

摘要

脆性X综合征是家族性智力残疾最常见的病因。最近，与脆性X综合征相关的基因（“脆性X智力低下”-1基因，即FMR-1基因）已被分离出来。在这篇综述中，将讨论脆性X综合征的临床和分子方面、当前的益处以及未来的前景。