Article Title: A genome-first study of sex chromosome aneuploidies provides evidence of Y chromosome dosage effects on autism risk
Authors: Berry, Finucane, Myers, Walsh, Seibert, Martin, Ledbetter, and Oetjens
Date of Publication: October 1, 2024
“In this study, we examined four SCAs in the SPARKMC-SCA cohort to explore how variations in sex chromosome dosage impact ASD risk. In our primary analysis examining the association between SCAs and ASD, we found the extra Y effect was significantly larger than the extra X effect. This conclusion was drawn from our observation that individuals with 47,XYY showed a 2.4-fold higher risk of ASD compared to those with 46,XY, and supported by our observation that individuals with 47,XXY were at a 4.6-fold higher risk compared to those with 46,XX.”