Infantile autism and associated autosomal chromosome abnormalities: A register-based study and a literature survey

Infantile autism is a heterogenous disorder with unknown aetiology. Evidenc e from the relatively few family and twin studies suggests a genetic compon ent. Go-occurrence or cosegregation between infantile autism and chromosoma l abnormalities may identify candidate regions, which could be tested in li nkage or association studies. The purpose of this study was to use the Danish Cytogenetic Central Registe r in order to detect autosomal chromosome abnormalities associated with inf antile autism, and to review the literature for cases of autism associated with autosomal chromosome abnormalities to identify candidate chromosomal r egions. The register-based study identified possible candidate regions on chromosom e 7q21 and 10q21.2, which have not previously been reported. A few interesting candidate regions, 15q11-13, 16q23, and 17p11.2 were foun d in the literature survey.