Journal of Autism and Developmental Disorders

, Volume 29, Issue 4, pp 275–285

Chromosomal Abnormalities in a Series of Children with Autistic Disorder

  • M. Mary Konstantareas
  • S. Homatidis

DOI: 10.1023/A:1022155201662

Cite this article as:
Konstantareas, M.M. & Homatidis, S. J Autism Dev Disord (1999) 29: 275. 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.

Chromosomal abnormalitiesautistic disorderkaryotypes

Copyright information

© Plenum Publishing Corporation 1999

Authors and Affiliations

  • M. Mary Konstantareas
    • 1
  • S. Homatidis
    • 2
  1. 1.Department of PsychologyCollege of Social Science, University of GuelphGuelphCanada
  2. 2.Kerry's Place Autism ServicesAuroraCanada