articleNew England Journal of MedicineJan 9, 2008BRONZE OA

Association between Microdeletion and Microduplication at 16p11.2 and Autism

Autism Consortium · Harvard University Press · +4 more institutions

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Abstract

Background

Autism spectrum disorder is a heritable developmental disorder in which chromosomal abnormalities are thought to play a role.

Methods

As a first component of a genomewide association study of families from the Autism Genetic Resource Exchange (AGRE), we used two novel algorithms to search for recurrent copy-number variations in genotype data from 751 multiplex families with autism. Specific recurrent de novo events were further evaluated in clinical-testing data from Children's Hospital Boston and in a large population study in Iceland.

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