Chromosomal abnormalities in a series of children with autistic disorder

J Autism Dev Disord. 1999 Aug;29(4):275-85. doi: 10.1023/a:1022155201662.


In a series of 127 children diagnosed with autistic disorder the karyotypes of 8, on whom data were available, showed the following chromosomal abnormalities: breakage, a 47 XY pattern, trisomy 13, inversion-duplication of chromosome 15, 47 XY, +der (15) (pter q15: p11 pter), 47 XXY and 46 XY, inv (2) (p11:q13pat, 3q+). Compared to those who were not karyotyped or had normal karyotypes, the children with abnormalities, although cognitively more delayed, were not rated as more severely autistic. Facial dysmorphias and minor physical anomalies tended to be more frequent in the chromosomally deviant subgroup. No differences in demographic characteristics or parental ages were evident. Results are consistent with the view of variability of expression of marker chromosome deviations and a greater severity of retardation and symptoms of autism in those affected. The relevance of the findings to a multimodal genetic etiology of autistic disorder is discussed.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Autistic Disorder / complications
  • Autistic Disorder / genetics*
  • Child
  • Child, Preschool
  • Chromosome Aberrations / diagnosis*
  • Chromosome Disorders
  • Female
  • Genetic Variation
  • Humans
  • Intellectual Disability / complications
  • Karyotyping
  • Male
  • Phenotype