Xp deletions associated with autism in three females

We report eight females with small deletions of the short arm of the X chro mosome, three of whom showed features of autism. Our results suggest that t here may be a critical region for autism in females with Xp deletions betwe en the pseudoautosomal boundary and DXS7103. We hypothesise that this effec t 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.