Freitag C M
Department of Child and Adolescent Psychiatry, Saarland University Hospital, Homburg, Germany.
Mol Psychiatry. 2007 Jan;12(1):2-22. doi: 10.1038/sj.mp.4001896. Epub 2006 Oct 10.
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.
自闭症谱系障碍（AD）的双生子和家系研究已经阐明了AD狭义和广义表型的高遗传性。在这篇关于AD遗传学的综述中，我们首先将描述AD的表型，并讨论鉴别诊断的各个方面，这些方面与自闭症遗传学尤其相关。将详细介绍细胞遗传学和分子遗传学研究，并描述可能涉及的病因病理途径。还将提及不同遗传研究结果对遗传咨询的意义。
