Combining two genetic tests with a physical exam may flag young children at risk for autism years earlier than behavioral assessments do.

A new tool that charts large DNA duplications and deletions in single cells may help researchers assess the variants’ contribution to autism.

Alterations to chromosome 7 lead to changes in the chemical marks that direct gene expression.

For many parents, genetic testing for a child with autism can bring relief, support and sometimes a way forward.

A surprisingly large proportion of people with autism have complex chromosomal rearrangements that were missed by conventional genetic screening.

More than 10 percent of people carry deletions or duplications of DNA that diminish their intellectual capacity. The findings, based on a large study of an Estonian population, suggest that the bigger the mutation, the more severe a person’s cognitive deficits.

Mutations in a section of chromosome 16 that is linked to autism have an unexpected effect: They alter the miniscule hairs, or cilia, that adorn the surface of all cells. The findings suggest that problems with these cilia may contribute to autism.

Rare inherited mutations may contribute to autism in roughly 10 percent of boys with the disorder, according to a study published 11 May in Nature Genetics. These genetic glitches are primarily passed down from unaffected mothers.

A new method simultaneously reveals a single cell’s DNA sequence and which of its genes are turned on.

Children who carry an extra copy of part of chromosome 7 have symptoms ranging from social phobia to speech impediments. About one-third of them show signs of autism, according to the first systematic analysis of people with 7q11.23 duplication syndrome.