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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.

Keywords

Specific Gene Critical Region Small Deletion Pseudoautosomal Boundary 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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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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