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Hum Genet. 1999 Jan;104(1):43-8.

Xp deletions associated with autism in three females.

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  • 1Wessex Regional Genetics Laboratory, Salisbury District Hospital, Wilts, UK.


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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