Autism in fragile X females

Am J Med Genet. 1986 Jan-Feb;23(1-2):375-80. doi: 10.1002/ajmg.1320230129.

Abstract

We present two women with the fragile X syndrome (Martin-Bell syndrome) and autism. Both are mentally retarded, one mildly and one severely. Cytogenetic studies showed a high percentage of lymphocytes with the fragile X chromosome and inactivation occurring preferentially in the normal X chromosome. Autism is shown to be a severe behavioral and cognitive manifestation of the fragile X syndrome in females.

Publication types

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

MeSH terms

  • Adult
  • Autistic Disorder / etiology
  • Autistic Disorder / genetics*
  • Autistic Disorder / psychology
  • Behavior
  • Chromosome Aberrations
  • Chromosomes, Human, 1-3
  • Dosage Compensation, Genetic
  • Female
  • Fragile X Syndrome / complications*
  • Fragile X Syndrome / genetics
  • Fragile X Syndrome / psychology
  • Heterozygote
  • Humans
  • Sex Chromosome Aberrations / complications*