Autism Linked with Deletions and Duplications at Chromosome 16p11.2

The search is on for genes that cause autism. During the past few years, a number of chromosomal areas have been associated with autism. Researchers in Boston describe microdeletions and microduplications at chromosome 16p11.2 that account for about 1% of cases.

Investigators utilized two new techniques to identify microdeletions and microduplications and identified 5 children with autism who had deletions of chromosome 16p11.2 and 7 children with autism who had reciprocal duplications among 751 families in the Autism Genetic Resource Exchange. They confirmed these findings by identifying 5 children with the same deletion and 4 children with the same duplication in a sample of 512 children with autism from Children’s Hospital Boston. They al…