A Hemizygous 370 Kilobase Microduplication at Xq13.1 in a Three-Year-Old Boy With Autism and Speech Delay.

Published in: Fetal and pediatric pathology (2019)

NLGN3, TAF1, and MED12 alterations, located on Xq13.1, have been associated with ASD. TAF and MED12 have other clinical features not present in our case. This supports that duplication of NLGN3 may be associated with ASD.

Keyphrases

autism spectrum disorder
intellectual disability
attention deficit hyperactivity disorder
hearing loss
working memory