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Übersichtsarbeit

Genetik autistischer Störungen

Published Online:January 23, 2008https://doi.org/10.1024/1422-4917.36.1.7

Abstract

Zusammenfassung: Autistische Störungen sind heterogene Erkrankungen. Die Betroffenen zeigen Einschränkungen der Kommunikation und sozialen Interaktion und stereotypes, repetitives Verhalten sowie Sonderinteressen. Der überwiegende Teil der autistischen Störungen sind genetisch bedingt. In dem Artikel wird eine Übersicht über zytogenetische Veränderungen sowie molekulargenetische Kopplungs- und Assoziationsstudien gegeben. Wichtige Differentialdiagnosen werden beschrieben. Die Ergebnisse dieser Studien haben eine besondere Bedeutung für die genetische Beratung der Familien.


The genetics of autistic disorders

Summary: Autistic disorders are heterogeneous. Affected individuals show impairments in communication and social interaction, as well as stereotypic, repetitive behaviour and special interests. The majority of autistic disorders are genetic in origin. The current article presents an overview of cytogenetic findings, as well as of results of molecular genetic linkage and association studies. Important differential diagnoses will be described. The results of genetic studies are especially relevant with regard to genetic counselling for affected families. Key words: autistic disorders, genetics, linkage, association, cytogenetic, genetic counselling

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