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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Received: 6 April 1998 / Accepted: 4 November 1998
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Thomas, N., Sharp, A., Browne, C. et al. Xp deletions associated with autism in three females. Hum Genet 104, 43–48 (1999). https://doi.org/10.1007/s004390050908
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DOI: https://doi.org/10.1007/s004390050908