Identification of Novel Chromosomal Abnormalities, inv(5)(p13q13) and t(7;18)(q32;q21), Associated with Autism

Abstract: Autism is a neurodevelopmental disorder defined by impairments in social interaction, communication, as well as restricted and stereotyped behaviors. While the etiology of autism remains largely unknown, the existence of genetic components has been clearly demonstrated in autistic pathogenesis. The incidence of autism is 50-100 fold greater in the population with autistic family history than the general population. Chromosomal abnormalities in 15q11-13 and 7q22-32 regions have been frequently detected in autistic patients. Abnormalities in other chromosomal regions, including 14q32.3 deletion and t(5;18)(q33.1;q12.1) translocation, have also been reported. Despite these progresses, the exact genetic changes which underlie the disorder remain elusive. We report here two novel chromosomal abnormalities, an inversion inv(5)(p13;q13) and a translocation t(7;18)(q32;q21) in two autistic children. These findings may help to identify the candidate genes, whose aberrations may contribute to autistic pathogenesis. Key words: autism, reciprocal translocation t(7;18)(q32;q21), inversion inv(5)(p13q13