Thank you to everyone that ordered a 2025 AXYS Community Conference t-shirt!
T-shirts will be delivered to the conference and you will be able to pick them up during check-in.
The deadline to order t-shirts was June 1. We are no longer taking new orders for shirts. Shirts will not be available for purchase at the conference.
If you have any questions please email Gail Decker.
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
βIn 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.β
One in a series of online meetings hosted by Ginnie Cover where she will discuss and answer questions about the following topics:
β’ Transition to Adulthood for Individuals with X and Y Variations, a new consensus document developed and written by Dorothy Boothe and Ginnie Cover
β’ Her upcoming book about a young family confronting the reality of a prenatal Klinefelter syndrome diagnosis, Supplemental Needs: A Novel
β’ The GALAXY registry (Generating Advancements in Longitudinal Analysis in X&Y Chromosome Variations), a repository of demographic and medical data
One in a series of online meetings hosted by Ginnie Cover where she will discuss and answer questions about the following topics:
β’ Transition to Adulthood for Individuals with X and Y Variations, a new consensus document developed and written by Dorothy Boothe and Ginnie Cover
β’ Her upcoming book about a young family confronting the reality of a prenatal Klinefelter syndrome diagnosis, Supplemental Needs: A Novel
β’ The GALAXY registry (Generating Advancements in Longitudinal Analysis in X&Y Chromosome Variations), a repository of demographic and medical data
One in a series of online meetings hosted by Ginnie Cover where she will discuss and answer questions about the following topics:
β’ Transition to Adulthood for Individuals with X and Y Variations, a new consensus document developed and written by Dorothy Boothe and Ginnie Cover
β’ Her upcoming book about a young family confronting the reality of a prenatal Klinefelter syndrome diagnosis, Supplemental Needs: A Novel
β’ The GALAXY registry (Generating Advancements in Longitudinal Analysis in X&Y Chromosome Variations), a repository of demographic and medical data
One in a series of online meetings hosted by Ginnie Cover where she will discuss and answer questions about the following topics:
β’ Transition to Adulthood for Individuals with X and Y Variations, a new consensus document developed and written by Dorothy Boothe and Ginnie Cover
β’ Her upcoming book about a young family confronting the reality of a prenatal Klinefelter syndrome diagnosis, Supplemental Needs: A Novel
β’ The GALAXY registry (Generating Advancements in Longitudinal Analysis in X&Y Chromosome Variations), a repository of demographic and medical data
One in a series of online meetings hosted by Ginnie Cover where she will discuss and answer questions about the following topics:
β’ Transition to Adulthood for Individuals with X and Y Variations, a new consensus document developed and written by Dorothy Boothe and Ginnie Cover
β’ Her upcoming book about a young family confronting the reality of a prenatal Klinefelter syndrome diagnosis, Supplemental Needs: A Novel
β’ The GALAXY registry (Generating Advancements in Longitudinal Analysis in X&Y Chromosome Variations), a repository of demographic and medical data
Article Title: Deep phenotypic analysis of psychiatric features in genetically defined cohorts: application to XYY syndrome
Authors: Raznahan, Rau, Schaffer, Liu, Fish, Mankiw, Xenophontos, Clasen, Joseph, Thurm, Blumenthal, Bassett, and Torres
Date of Publication: February 20, 2023
“Across the full XYY group, we find a complex correlation between psychopathology and functioning such that the most severely impacted symptom domains are not necessarily those most predictive of adaptive functioning or caregiver strain. Finally, network modelling suggests 8 main axes of psychopathology in XYY syndrome, with core roles for overall symptom scores, inattention, and social difficulties.”
Article Title: Associations of psychiatric disorders with sex chromosome aneuploidies in the Danish iPSYCH2015 dataset: a case-cohort study
Authors: SΓ‘nchez, Montalbano, Vaez, Krebs, Byberg-Grauholm, Mortensen, BΓΈrglum, Hougaard, Nordentoft, Geschwind, Buil, Schork, Thompson, Raznahan, Helenius, Werge, and Ingason
Date of Publication: February 2023
“Increased risks of psychiatric disorders associated with sex chromosome aneuploidies, combined with low rates of clinical diagnosis of sex chromosome aneuploidies, compromise the adequate provision of necessary health care and counselling to affected individuals and their families, which might be helped by increased application of genetic testing in clinical settings.”
