Autism associated with marker chromosome

J Am Acad Child Adolesc Psychiatry. 1991 May;30(3):489-94. doi: 10.1097/00004583-199105000-00022.

Abstract

Six boys who all showed the combination of moderate-severe mental retardation, autistic behavior, and mild-moderate physical stigmatization are described. Muscular hypotonia, epilepsy, and kyphoscoliosis were associated features in several cases, as were extremes of short stature and low weight. A supernumerary chromosome was found in all six cases, and it appears that there may be a separate syndrome associated with partial trisomy of chromosome 15.

Publication types

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

MeSH terms

  • Adolescent
  • Adult
  • Autistic Disorder / genetics*
  • Child
  • Child, Preschool
  • Chromosomes, Human, Pair 15*
  • Diseases in Twins
  • Genetic Markers*
  • Humans
  • Intellectual Disability / genetics
  • Male
  • Trisomy*

Substances

  • Genetic Markers