Familial autism and the fragile-X chromosome

J Autism Dev Disord. 1984 Jun;14(2):197-204. doi: 10.1007/BF02409662.


This report presents two male siblings in whom the diagnosis of infantile autism was found in association with a fragile site on the X chromosome. In addition to their marked autistic characteristics, formal examinations indicated that both boys were severely mentally retarded and had several physical features commonly observed in association with the fragile-X syndrome. The mother of these two siblings also gave birth to identical twin boys, who were developmentally delayed and showed several autistic features prior to their untimely death in a house fire. The possible role of the fragile-X chromosome as an etiological factor in families where there is a clustering of autism and related developmental disturbances is discussed.

Publication types

  • Case Reports

MeSH terms

  • Autistic Disorder / diagnosis
  • Autistic Disorder / genetics*
  • Child
  • Child Development
  • Child, Preschool
  • Diseases in Twins
  • Fragile X Syndrome / diagnosis
  • Fragile X Syndrome / genetics*
  • Humans
  • Karyotyping
  • Male
  • Sex Chromosome Aberrations / genetics*