A genome-first study of sex chromosome aneuploidies provides evidence of Y chromosome dosage effects on autism risk
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
2025 AXYS Community Conference
Friday, July 25 – Sunday, July 27, 2025
The Emory Conference Center Hotel | Atlanta, GA
AXYS is delighted to announce the comeback of the in-person Community Conference, the first since 2019, as we return to the amazing facilities at the Emory Conference Center Hotel in Atlanta, Georgia! Save the date for what will be a wonderful gathering of our entire community!
The AXYS Community Conference brings together people diagnosed with an X or Y chromosome variation, parents, families, friends, healthcare professionals, and researchers to connect with people who understand the journey, learn about available resources and supports, and engage with experts to gain insight on X and Y chromosome variation research and approaches to care.
REGISTRATION DEADLINESΒ βΆ Β In-person: July 10 | Virtual: July 21
(registration closes at 11:59pm Eastern Time on the above dates)
Weβre so happy you can join us! A quick reminder that all AXYS event attendees agree to abide by the AXYS Activities Conduct Policy. Please read this prior to attending an AXYS event.
Planning to fly to the conference? Check this listΒ to make sure you have an acceptable form of ID for your trip.

CANCELLED: NEXXYS/New England Support Group Meeting
EVENT CANCELLED – NEW DATE AND TIME TO BE ANNOUNCED
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
New York Metro/Mid-Atlantic Support Group Meeting
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
Florida Support Group Meeting
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
Upstate New York Support Group Meeting
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
Southeastern Support Group Meeting
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
AXYS 2023 Virtual Family Conference Agenda
For full conference session information, please visit the AXYS 2023 Virtual Family Conference registration page on the Zoom Events platform.
When visiting the above linked page, scroll down and you will see the tabs named “Sessions,” “Speakers,” and “Sponsors.” There you can search for sessions by keyword and/or filter them by date, X/Y variation, or target audience. Click/tap on a session for speaker information and a description. Please note that the agenda is still being updated and all agenda information is subject to change.
For those that have registered: from the conference lobby, go to the Sessions tab and bookmark sessions that interest you to build your own custom Agenda! You can do this by clicking the icon. Sessions that you bookmark will be added to the schedule that can be viewed by going to the Agenda tab. Click here for a video tutorial!
Agenda Overview
Times are in Eastern Daylight Time (U.S. and Canada)
Updated: 6/21/2023
Deep phenotypic analysis of psychiatric features in genetically defined cohorts: application to XYY syndrome
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.”