Human Genetics

, Volume 104, Issue 1, pp 43–48 | Cite as

Xp deletions associated with autism in three females

  • N. S. Thomas
  • Andrew J. Sharp
  • Caroline E. Browne
  • David Skuse
  • Chris Hardie
  • Nicholas R. Dennis
Original investigation

Abstract

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.

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Copyright information

© Springer-Verlag Berlin Heidelberg 1999

Authors and Affiliations

  • N. S. Thomas
    • 1
  • Andrew J. Sharp
    • 1
  • Caroline E. Browne
    • 1
  • David Skuse
    • 3
  • Chris Hardie
    • 2
  • Nicholas R. Dennis
    • 2
  1. 1.Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury Wilts SP2 8BJ, UK Fax: +44-1722-338095GB
  2. 2.Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, SO16 5YA, UKGB
  3. 3.Institute of Child Health, Behavioural Sciences Unit, 30 Guilford Street, London, WC1N 1EH, UKGB

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