Genetic and epidemiological investigations have yet to reveal what drives the large difference in ASD prevalence between the sexes. Here authors examine chromosome aneuploidy in a large ASD case-control cohort and report sex chromosome haploinsufficiency is a strong ASD risk factor, while the extra Y effect increases ASD risk significantly more than the extra X effect.
- Alexander S. F. Berry
- Brenda M. Finucane
- Matthew T. Oetjens
