Some overlap between 7q11.23 duplication syndrome and autism spectrum disorder has been reported in a large cohort of children. Individuals with duplication of this region show features commonly found in individuals with autism, such as speech delay.

Lucy Osborne and her colleagues at the University of Toronto have created a mouse model with duplications in eight key genes from the 7q11.23 chromosomal region. The researchers intend for this mouse model to be used as a tool for understanding which genes are important in the development of behavioral features in autism.