Trisomy X Support Group – All Ages
Register for this Zoom meeting
A meeting for people with Trisomy X of all ages to come hang out and discuss whatever is on your mind.
Generating Advancements in Longitudinal Analysis in X and Y Variations
Article Title: Generating Advancements in Longitudinal Analysis in X and Y Variations: Rationale, Methods, and Diagnostic Characteristics for the GALAXY Registry
Authors: Carl, Bothwell, Swenson, Bregante, Cohen, Cover, Dawczyk, Decker, Gerken, Hong, Howell, Raznahan, Rogol, Tartaglia, and Davis
Date of Publication: July 26, 2025
βSex chromosome aneuploidies (SCAs) are a family of genetic disorders that result from an atypical number of X and/or Y chromosomes. SCAs are the most common chromosomal abnormality, affecting ~1/400 live births, yet are often underdiagnosed, leading to over-representation of more severely impacted individuals in many clinical studies. In addition to this ascertainment bias, existing work in SCAs has also been limited by low geographic and demographic diversity. To address these limitations, we have created the Generating Advancements with Longitudinal Analysis in X and Y variations (GALAXY) Registry. Through prioritizing sustainability, transparency, and minimizing participant burden, the overarching goal of the GALAXY Registry is to improve health outcomes for individuals with SCAs by serving as an infrastructure for future SCA research based on a large, heterogeneous, and longitudinal sample. To date, GALAXY has accrued 335 verified SCA participants with an average accrual of 11.2 participants/month (6.7 47,XXY, 1.9 47,XXX, 2.0 47,XYY, 3.2 48,XXYY, 1.8 48,XXXY, and 1.3 Other). Demographic data between those identified to have SCA prenatally (predominantly cell-free DNA screening) differ from those diagnosed postnatally for insurance status, age at enrollment, genetic test type, and reason for SCA diagnosis. Next steps include targeted recruitment of underrepresented groups (e.g., non-47, XXY karyotypes, older adults, minoritized individuals), extraction of medical record data into the registry, international expansion, and continued engagement with the SCA community. As a collaboration between clinician investigators and the SCA community, the GALAXY Registry is a powerful resource for future patient-centered clinical research.β
AXYS Community Monthly Open House
For a link to the Zoom meeting, please email Rob & Jamie Lee at axysrockymountain@gmail.com or contact them via the Facebook group: facebook.com/groups/axysdenver
This gathering will happen on the 3rd Friday of every month. The room will be open from 5pm to 7pm Mountain Time (7pm-9pm Eastern, 6pm-8pm Central, 4pm-6pm Pacific).
“Because this is an Open House, you can join when you want and leave when you need to. You donβt have to be on time, but you can stay as long as you like. We are keeping the room open for two hours. We can keep the room open longer if there are good conversations happening. If you join after the room has been closed, weβll open it back up if weβre able. If we canβt be present, weβll pass the host hat to another person in the room and the conversations can continue.
This room is open to everyone impacted by any X&Y chromosome variation to connect with each other, and this includes families and caregivers. The Open House is a place to share resources, stories, and ask questions of the community.
This community is full of knowledge and experience. We all are navigating relationships, doctors and treatments, education, and making decisions while living life. Sometimes you get to connect with someone because they tell a story that sounds like your own. There are times that hearing another perspective gives you ideas about how to improve things in your daily life. Sometimes someone has a resource that really helps.
You may not feel like you need a support group, but please consider, you may be there for someone else. We have seen lives changed by a chance remark. All of our experiences are of value and our stories need to be heard. Often, we get answers to questions we didnβt even know we needed to ask.”
“Thank you for your consideration and we look forward to seeing everybody Friday night!”
– Rob & Jamie Lee
AXYS Rocky Mountain Support Group
Trisomy X Support Meeting – Adults aged 18+
Register for this Zoom meeting
Adults 18 and up with Trisomy X are welcome to join us via Zoom and discuss whatever is on your mind!
2025 AXYS Community Conference Materials
2025 AXYS Community Conference Materials
Presentations Slides
Welcome and Keynote | Parts 1 and 2: Welcome & Site Summaries | ACRC Members
Welcome and Keynote | Part 3: GALAXY Registry – Past Insights, Current Progress, Future DirectionsΒ | Shanlee Davis, Alexa Carl
The eXtraordinarY Babies Study – Progress and Research Findings | Nicole Tartaglia, Kayla Nocon
Updates from the NIMH Intramural Research Program Study on X/Y Chromosome Variations | Armin Raznahan
X and Y Chromosome Variations and Fertility Options | Hooman Sadri
Unpacking Social and Emotional Challenges for Teens/Young Adults with X/Y Variations | Caitlin Middleton, Kate Deer, Rebecca Wilson
Evaluation and Treatment Of ADHD & Anxiety In Children | Caitlin Middleton, Ciara Gurley
Understanding X and Y Variations: Genetic Diagnosis, Terminology & Next Steps Planning | Susan Howell, Kayla Molison
Transition to Adulthood – Services for Teens and Adults to Achieve Employment and Independence: Deck 1 | Deck 2 | Consensus Document | Dorothy Boothe, Ginnie Cover
Poster Presentations
All Variations
15-year trends in US pediatric sex chromosome trisomy diagnoses | Shanlee Davis, Karli Swenson, Alexandra Carl, Agnethe Berglund, Courtney Finlayson, Chijioke Ikomi, Nicole Tartaglia
Demographic Composition of Participants in Sex Chromosome Aneuploidy Studies across the Globe: a 20-year Systematic Review | Karli Swenson
The eXtraordinary Babies Study: Breastfeeding Trends and Challenges in the First Year of Life | Lidia H. Grzybacz, Susan Howell, Shanlee Davis, Judith Ross, Nicole Tartaglia
The eXtraordinarY Babies Study: Evolving Parental Perspectives and Priorities While Raising a Child Prenatally Diagnosed with Sex Chromosome Trisomy | Susan Howell, Kayla Molison, Talia Thompson, Shanlee Davis, Judith Ross, Nicole Tartaglia
The eXtraordinarY Babies Study: Parental Emotional Experiences and Coping Strategies During Prenatal Sex Chromosome Aneuploidy Diagnosis | Kayla Molison, Susan Howell, Talia Thompson, Samantha Bothwell, Shanlee Davis, Judy Ross, Nicole Tartaglia
From Deficit to Difference: Depathologizing the Language of Genetics | Elliot Polak, Nina Polak
Prenatal, Birth, and Neonatal Outcomes in Sex Chromosome Aneuploidies: Data from the INSIGHTS and GALAXY RegistriesΒ | Alyssa Keller, Alexandra Carl, Samantha Bothwell, Karli Swenson, Susan Howell, Nicole Tartaglia, Shanlee Davis
47,XXY
Could there be a link between venous thromboembolic events and testosterone replacement therapy in patients with Klinefelter Syndrome? | I. Samy, A. Alarayedh, Kapz, P. Carroll, T. Yap
A double diagnosis: The psychological impact of discovering Klinefelter Syndrome during infertility evaluation | Claire Harkin, J. Elander, B. Woodward, T. Yap
Growth Charts for Boys with 47,XXY | Samantha Bothwell, Shanlee Davis, Taylor Marshall, Karli Swenson, Natalie Nokoff, Amelia Middleton,, Anna Furniss, Maram Alkhdour, Dimitri Christakis, Victoria Elliott, Jennifer Heeley, Chijioke Ikomi, Judith Ross, Stephen Stone, Maria Vogiatzi, Nicole Tartaglia
KidS Camp: Encouraging Physical Fitness and Positive Self-Concept in Adolescents with Klinefelter Syndrome | S. Ratnam, J. Papadakis, A. Goetsch Weisman, E. Leeth, T. Huit, D. Lee, K. Pothast, A. Tubman, L. Lucio, W. Brickman, C. Finlayson
Predicting Variable Developmental Outcomes from Family Data in XXY Syndrome | Shara Reimer, Siyuan Liu, Kathleen E. Wilson, Liv S. Clasen, Erin N. Torres, Jonathan Blumenthal, Armin Raznahan
48,XXYY
The eXtraordinarY Baby Study: Natural History of Infants Identified with XXYY in the Prenatal Period | Kayla Nocon, Karli Swenson, Susan Howell, Shanlee Davis, Samantha Bothwell, Judy Ross, Nicole Tartaglia
Psychotropic Medication Use In 48,XXYY Syndrome: Patterns, Effectiveness, and Clinical Implications | Joanna Dreyer, Amity Howard, Susan Howell, Samantha Bothwell, Kayla Molison, Alexandra Carl, Karli Swenson, Shanlee Davis, Gail Decker, GALAXY consortia, Nicole Tartaglia
2025 AXYS Community Conference Agenda for Virtual Attendees
2025 AXYS Community Conference Agenda for Virtual Attendees
Saturday, July 26
Sunday, July 27
AXYS Monthly Drop-in Chat
AXYS Monthly Drop-in Chat
1st Sunday of the Month, 9pm EDT (7pm CDT, 8pm MDT, 9pm PDT)
All variations, parents and adults welcome. Hosted by Ginnie Cover.
Register for the next meeting on Zoom
AXYS Community Monthly Open House
For a link to the Zoom meeting, please email Rob & Jamie Lee at axysrockymountain@gmail.com or contact them via the Facebook group: facebook.com/groups/axysdenver
This gathering will happen on the 3rd Friday of every month. The room will be open from 5pm to 7pm Mountain Time (7pm-9pm Eastern, 6pm-8pm Central, 4pm-6pm Pacific).
“Because this is an Open House, you can join when you want and leave when you need to. You donβt have to be on time, but you can stay as long as you like. We are keeping the room open for two hours. We can keep the room open longer if there are good conversations happening. If you join after the room has been closed, weβll open it back up if weβre able. If we canβt be present, weβll pass the host hat to another person in the room and the conversations can continue.
This room is open to everyone impacted by any X&Y chromosome variation to connect with each other, and this includes families and caregivers. The Open House is a place to share resources, stories, and ask questions of the community.
This community is full of knowledge and experience. We all are navigating relationships, doctors and treatments, education, and making decisions while living life. Sometimes you get to connect with someone because they tell a story that sounds like your own. There are times that hearing another perspective gives you ideas about how to improve things in your daily life. Sometimes someone has a resource that really helps.
You may not feel like you need a support group, but please consider, you may be there for someone else. We have seen lives changed by a chance remark. All of our experiences are of value and our stories need to be heard. Often, we get answers to questions we didnβt even know we needed to ask.”
“Thank you for your consideration and we look forward to seeing everybody Friday night!”
– Rob & Jamie Lee
AXYS Rocky Mountain Support Group
2025 AXYS Community Conference | Conference Safety
Conference Safety
AXYS cares about safety and security for all of our Family Conference attendees and we provide a family-friendly atmosphere at our events where all participants feel comfortable. With this in mind the board has adopted the AXYS Activities Conduct Policy. Please read this document. Your registration for attendance at any AXYS event indicates your agreement to abide by this policy and its terms. Should you not agree, you can apply to have your registration refunded by sending a request to our Board Chair.
Name Badges
AXYS requires attendees to wear their name badges at all times during the conference. You must display your badge to be admitted to the conference educational sessions as well as the Wisteria Lanes and other hotel areas being used by the conference.
Badges are picked up upon arrival when you check in at the registration desk. Should you lose your badge, please come back to the registration desk with a photo ID to receive a replacement.
Family members not attending sessions
We know that some of our conference attendees bring family members to assist with family member care. We welcome those family members and ask that if they wish to assist at the conference that they register with Ginnie Cover, our Chair as a conference volunteer so they can be issued a name badge. Please note if they are able to volunteer to assist others, or if they are only able to care for just your family member.
Children under 18
AXYS strives to create a family-friendly conference. Therefore, the registration fee for children ages 0-17 includes a professionally staffed child care center to give parents the opportunity to fully enjoy the speakers for both Saturday and Sunday. On Saturday, Children 11-17 will have the opportunity to participate in a Chromodiversity Camp which is also professionally staffed. The camp is available on a first come first serve basis with enrollment limited to 15. On Sunday, there will be a variety of activities for children 11 to 17 including board games, crafts and videos. Children ages 0-17 who are registered will have breakfast and lunch available on Saturday and Sunday. Bracelets will be provided for children 0-17 registered for childcare and Chromodiversity Camp indicating that they may have meals and participate in organized activities.
We warmly welcome older children and teens at our conference. Weβve contracted for 2 sessions in the Wisteria Lanes bowling center at the hotel. While these areas will be staffed with volunteers, parents are responsible for their children at all times. Parents will be required to sign children in and out of the childcare services or Chromodiversity Camp, and must provide a cell phone number where they can be reached at any time. Parents must be available at any time to collect their child in case any problem occurs.
Teens ages 13-17 need not be registered for the conference if they do not wish to have provided meals or to participate in childcare activities and camp. Children 0-12 must be supervised by a parent or other guardian if they are not registered.
Chromodiversity Camp Registration
Chromodiversity Camp Registration
While parents attend the AXYS Conference, Chromodiversity is offering a free, fun, and supportive Teen ChromoEvent on Saturday, July 26 from 8:30 AM to 2:00 PM at the Emory Conference Center Hotel in Atlanta. Open to kids and teens aged 11 to 17 with X or Y variations, and their siblings.
The day includes:
- Bowling and billiards at Wisteria Lanes
- Strengths discovery quiz
- Outdoor walk (weather permitting)
- Lunch time
- Lived-experience mentorship with Brock (who has an extra X chromosome himself)
- Small take-home gift
Spots are limited and will be filled on a first come, first served basis. (Kids 13+ do not need to stay the entire duration if they prefer some unstructured time.) For any questions, contactΒ nina@chromodiversity.org. For more information, visit:Β https://www.chromodiversity.org/axys-chromoexperience
To reserve your spot, register your child for the conference, then send an email to Lindsey Lind by June 20 at llind@genetic.org with the following information for each child attending:
- Name of child
- Birthdate
- Name of parent
- Parent email
- Parent cell phone
- Gender
- Genetic signature, if the child has an X or Y chromosome variation
- Is the child a sibling of a child with an X or Y chromosome variation
- Please let us know about any special needs