Xp deletions associated with autism in three females

Hum Genet. 1999 Jan;104(1):43-8. doi: 10.1007/s004390050908.


We report eight females with small deletions of the short arm of the X chromosome, three of whom showed features of autism. Our results suggest that there may be a critical region for autism in females with Xp deletions between the pseudoautosomal boundary and DXS7103. We hypothesise that this effect might be due either to the loss of function of a specific gene within the deleted region or to functional nullisomy resulting from X inactivation of the normal X chromosome.

Publication types

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

MeSH terms

  • Autistic Disorder / diagnosis
  • Autistic Disorder / genetics*
  • Child
  • Child, Preschool
  • Chromosome Breakage / genetics
  • Chromosome Deletion*
  • Chromosome Mapping
  • Dosage Compensation, Genetic
  • Female
  • Humans
  • Karyotyping
  • X Chromosome / genetics*