Xp deletions associated with autism in three females
- Cite this article as:
- Thomas, N., Sharp, A., Browne, C. et al. Hum Genet (1999) 104: 43. doi:10.1007/s004390050908
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.