Infantile Autism and Associated Autosomal Chromosome Abnormalities: A Register-based Study and a Literature Survey



Infantile autism is a heterogenous disorder with unknown aetiology. Evidence from the relatively few family and twin studies suggests a genetic component. Co-occurrence or cosegregation between infantile autism and chromosomal abnormalities may identify candidate regions, which could be tested in linkage or association studies.

The purpose of this study was to use the Danish Cytogenetic Central Register in order to detect autosomal chromosome abnormalities associated with infantile autism, and to review the literature for cases of autism associated with autosomal chromosome abnormalities to identify candidate chromosomal regions.

The register-based study identified possible candidate regions on chromosome 7q21 and 10q21.2, which have not previously been reported.

A few interesting candidate regions, 15q11–13, 16q23, and 17p11.2 were found in the literature survey.