Autism often arises in low-risk families via mutations that show up in a child but are not present in the parents’ DNA. A chromosome inversion, where a single chromosome undergoes breakage and rearranges itself (left), is one example. The autism-related gene CNTNAP2 (highlighted at right by a fluorescent probe) is split in an inverted chromosome.
Credit: Nicole Wright/Yale School of Medicine, American Journal of Human Genetics
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Review by Janet Raloff
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