Study zeroes in on key part of DNA deletion linked to autism

Deletions within a specific segment of chromosome 22 raise the risk of autism, a new study suggests.

Deletions or duplications of DNA in this region, called 22q11.2, are associated with autism and schizophrenia, as well as heart and gastrointestinal problems.

In most cases, these deletions or duplications span the entire region. But in about 15 percent of cases, they affect just one of four segments within 22q11.2.

Researchers now report that only one of these segments is tied to autism: 5 of 12 children with a deletion have the condition, compared with none of 8 other children with a deletion or duplication in any of the other three segments.

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13th December 2017