Fragile X syndrome .1. An overview on its genetic mechanism

被引：2
作者：
Barbe, B
Franke, P
Maier, W
Leboyer, M
机构：
[1] CNRS, URA 1957, Hôp. Pitie-Salpêtriere
[2] Service de Psychiatrie Adulte, Prof JF Allilaire, Hôp. Pitie-Salpêtriere
[3] Department of Psychiatry, University of Bonn, Bonn
来源：
EUROPEAN PSYCHIATRY | 1996年 / 11卷 / 05期
关键词：
fragile X syndrome; unstable DNA triplet repeats; anticipation; FMR-1; neuropsychology; psychopathology;
D O I：
10.1016/0924-9338(96)82328-5
中图分类号：
R749 [精神病学];
学科分类号：
100205 ;
摘要：
A large body of literature has accumulated within the last decade concerning the fragile X syndrome, the most common cause of X-linked mental retardation. The first article of this review summarizes the peculiar genetic mechanisms and molecular biology properties leg, unstable DNA triplet repeats), which have been characterized since the detection of the FMR-1 gene in 1991. However, the most important question concerning the function of the FMR-1 gene is still an unresolved issue and is in need of future research. The second article of this review addresses the clinical picture, neuropsychological functioning and psychopathological characteristics of pre- and full mutation carriers.
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收藏
页码：227 / 232
页数：6
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