Identification of chromosome 7 inversion breakpoints in an autistic family narrows candidate region for autism susceptibility.

ABSTRACT: Chromosomal breaks and rearrangements have been observed in conjunction with autism and autistic spectrum disorders. A chromosomal inversion has been previously reported in autistic siblings, spanning the region from approximately 7q22.1 to 7q31. This family is distinguished by having multiple individuals with autism and associated disabilities. The region containing the inversion has been strongly implicated in autism by multiple linkage studies, and has been particularly associated with language defects in autism as well as in other disorders with language components. Mapping of the inversion breakpoints by FISH has localized the inversion to the region spanning approximately 99-108.75 Mb of chromosome 7. The proximal breakpoint has the potential to disrupt either the coding sequence or

SUBMITTER: Cukier HN 

PROVIDER: S-EPMC4441209 | biostudies-literature | 2009 Oct

REPOSITORIES: biostudies-literature