The genetics of autistic disorders and its clinical relevance: a review of the literature

被引：402

作者：

Freitag, C. M. ^{[1
]}

机构：

[1] Saarland Univ Hosp, Dept Child & Adolescent Psychiat, D-66421 Homburg, Germany

来源：

MOLECULAR PSYCHIATRY | 2007年 / 12卷 / 01期

关键词：

review; autistic disorders; cytogenetics; molecular genetics; genetic counselling;

D O I：

10.1038/sj.mp.4001896

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Twin and family studies in autistic disorders ( AD) have elucidated a high heritability of the narrow and broad phenotype of AD. In this review on the genetics of AD, we will initially delineate the phenotype of AD and discuss aspects of differential diagnosis, which are particularly relevant with regard to the genetics of autism. Cytogenetic and molecular genetic studies will be presented in detail, and the possibly involved aetiopathological pathways will be described. Implications of the different genetic findings for genetic counselling will be mentioned.

引用

页码：2 / 22

页数：21

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