Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation

Hum Mutat. 2007 Jul;28(7):674-82. doi: 10.1002/humu.20546.


Autism and mental retardation (MR) are often associated, suggesting that these conditions are etiologically related. Recently, array-based comparative genomic hybridization (array CGH) has identified submicroscopic deletions and duplications as a common cause of MR, prompting us to search for such genomic imbalances in autism. Here we describe a 1.5-Mb duplication on chromosome 16p13.1 that was found by high-resolution array CGH in four severe autistic male patients from three unrelated families. The same duplication was identified in several variably affected and unaffected relatives. A deletion of the same interval was detected in three unrelated patients with MR and other clinical abnormalities. In one patient we revealed a further rearrangement of the 16p13 imbalance that was not present in his unaffected mother. Duplications and deletions of this 1.5-Mb interval have not been described as copy number variants in the Database of Genomic Variants and have not been identified in >600 individuals from other cohorts examined by high-resolution array CGH in our laboratory. Thus we conclude that these aberrations represent recurrent genomic imbalances which predispose to autism and/or MR.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Autistic Disorder / genetics*
  • Child
  • Child, Preschool
  • Chromosome Banding
  • Chromosomes, Human, Pair 16*
  • Cohort Studies
  • Female
  • Gene Duplication*
  • Genetic Predisposition to Disease*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant
  • Intellectual Disability / genetics*
  • Male
  • Nucleic Acid Hybridization / methods*
  • Pedigree
  • Polymerase Chain Reaction