Helpline: 1‑267‑338‑4262 | helpline@genetic.org
AXYS - The Association for X&Y Chromosome Variations

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Helpline: 1‑267‑338‑4262 | info@genetic.org

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The emotional journey of adapting to prenatally identified trisomy X

Article Title: The emotional journey of adapting to prenatally identified trisomy X

Authors: Thompson, Tisher, Davis, Miller, Kirk, Tartaglia, and Howell

Date of Publication: August 19, 2023

“Results suggest providers should carefully consider word choice and timing in delivery of diagnosis, and genetic counseling should provide expectant parents with current research specific to trisomy X, facilitate connections with other parents of young girls with trisomy X, introduce developmental monitoring approaches, and be prepared to support families with a range of emotional responses to the diagnosis and decisions regarding disclosure.”

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2023-09-12T14:38:29-04:00Categories: 47,XXX (trisomy x)|Tags: , , , |

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

“Our proposed time for an open house on Zoom is the 2nd Tuesday of the month. We will host the room from 5-10 pm MT.”

“Come in when you can and leave when you want, we don’t expect anyone to stay the whole night, but if you feel like it you are welcome.  If this time never works for you, please tell us and we’ll find a compromise.”

“We would like to keep this group open to all X&Y variations and subgroups because we all have a lot in common.  Show up, talk about what’s going on in your life, celebrate successes, and vent about the difficult moments with people who understand. Tap into your community.”

“Separate subgroups are really helpful and we’ll make sure that everyone is made aware of the different groups. The best place to look is the support group page on the AXYS website. And we’ll be talking in the group about how to find these other groups.

Remember that if you don’t feel like you need support right now, it’s still worth showing up because you may meet someone who needs the answers that only you have.”

“Look forward to seeing you,
AXYS Rocky Mountain Chapter”
– Rob & Jamie Lee

2023-11-20T13:31:48-05:00

Sex Chromosome Dosage Effects on White Matter

Article Title: Sex Chromosome Dosage Effects on White Matter

Authors: Warling, Yavi, Clasen, Blumenthal, Lalonde, Raznahan, and Liu

Date of Publication: June 12, 2021

“These findings represent the most complete maps of X- and Y-chromosome effects on human white matter to date, and show how such changes connect to psychopathological symptoms and gray matter anatomy.”

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Eosinophilic esophagitis in individuals with sex chromosome aneuploidies: Clinical presentations and management implications

Article Title: Eosinophilic esophagitis in individuals with sex chromosome aneuploidies: Clinical presentations and management implications

Authors: Howell, Buchanan, Davis, Miyazawa, Furuta, Tartaglia, and Nguyen

Date of Publication: September 9, 2021

“The findings of this chart review demonstrate the importance for the community affected by SCA conditions to have an increased awareness of the variable presentations of eosinophilic esophagitis (including coping strategies), especially among different age groups and in the context of neurodevelopmental problems, the need for specific screening for EoE symptoms, and referral to GI for evaluation and treatment. Such clinical knowledge and action can facilitate diagnosing EoE as early as possible and improve quality of life, symptom management, and limit progression of severity for patients.”

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AXYS Chat Pop-in #1

This is a weekly meeting space for anyone 18 and up with any X and/or Y variation! It will be available every Friday between 12:15 and 1pm (Eastern Time, U.S. and Canada).

Come hang out in an open, friendly environment. Chat with others or just check things out with no obligation to speak or be on camera. Celebrate your accomplishments and support others in their challenges.

Think of it as a room with an open-door policy; come to whatever meetings you want; come and go as you please within the 45 minute time period.

Your privacy is very important to us. AXYS will not record any of these meetings and we ask that you please respect the privacy of other attendees. We also ask that you abide by the AXYS Activities Conduct Policy: https://genetic.org/axys-activities-conduct-policy/

This meeting is not intended to be therapy and should not be used as a substitute for the services of a mental health professional.

2023-11-20T13:27:43-05:00

AXYS Chat Pop-in #2

In response to your feedback, we have added this 2nd weekly meeting! This meeting will be available every Wednesday evening between 9 and 9:45pm Eastern Time, U.S. and Canada.

Start times in other regions: 8pm Central | 7pm Mountain | 6pm Pacific

AXYS Chat Pop-ins are weekly meeting spaces for anyone 18 and up with any X and/or Y variation! We would like to stress that these meetings are intended ONLY for those with an X/Y variation.

Come hang out in an open, friendly environment. Chat with others or just check things out with no obligation to speak or be on camera. Celebrate your accomplishments and support others in their challenges.

Think of it as a room with an open-door policy; come to whatever meetings you want; come and go as you please within the 45 minute time period.

Your privacy is very important to us. AXYS will not record any of these meetings and we ask that you please respect the privacy of other attendees. We also ask that you abide by the AXYS Activities Conduct Policy: https://genetic.org/axys-activities-conduct-policy/

This meeting is not intended to be therapy and should not be used as a substitute for the services of a mental health professional.

2023-11-20T13:28:33-05:00

Quality of life in men with Klinefelter Syndrome – a multicentre study

Article Title: Quality of life in men with Klinefelter Syndrome – a multicentre study

Authors: Franik, Fleischer, Kortmann, Stikkelbroek, D’Hauwers, Bouvattier, Slowikowska-Hilczer, Grunenwald, Van de Grift, Cartault, Richter-Unruh, Reisch, Thyen, IntHout, and Claahsen-van der Grinten

Date of Publication: August 14, 2023

“Overall QOL in European men with KS is significantly worse compared to a healthy European reference population. Especially the presence of discrimination, less social activities and chronic health problems is associated with lower physical, psychological and social QOL. Further studies are necessary to investigate if a multidisciplinary approach may help to provide adequate counseling and psycho-social support to improve quality of life.”

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2023-08-17T14:27:58-04:00Categories: 47,XXY (Klinefelter)|Tags: |

SF Bay Area Support Group Annual Picnic

Join us for an informal get-together in Mountain View. All members of the family are invited.

Date: Sunday, October 8th
Where: Register/RSVP or join the Facebook group for details

Agenda:

• Socialization activities, potluck

• Group introductions, announcements of research and upcoming events

• Socialization activities, potluck continues

What to bring:

• Food and drink for you and your family, or to share – whatever works for you. There should not be any pressure; we will have bagels, cream cheese, humus, water and some drinks if you do not have time to get anything.

• A chair or a blanket to sit on during our introduction circle.

• Games for your little ones.

Register/RSVP

2023-09-21T12:05:52-04:00

Association of Supernumerary Sex Chromosome Aneuploidies With Venous Thromboembolism

Article Title: Association of Supernumerary Sex Chromosome Aneuploidies With Venous Thromboembolism

Authors: Berry, Finucane, Myers, Abril, Kirchner, Ledbetter, Martin, and Oetjens

Date of Publication: January 17, 2023

“Adults with supernumerary sex chromosome aneuploidies compared with 2 sex chromosomes had a small but statistically significant increased risk of VTE. Further research is needed to understand the clinical implications of this association.”

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2024-08-19T16:56:14-04:00Categories: 47,XXX (trisomy x), 47,XXY (Klinefelter), 47,XYY|Tags: , |

Understanding the phenotypic spectrum and family experiences of XYY syndrome: Important considerations for genetic counseling

Article Title: Understanding the phenotypic spectrum and family experiences of XYY syndrome: Important considerations for genetic counseling

Authors: Jodarski, Duncan, Torres, Gore, Raznahan, and Similuk

Date of Publication: January 7, 2023

“XYY syndrome is a diagnosis that has significant implications on not only the affected individual, but the family as well. It is therefore imperative that HCPs fully understand the range of lived experiences with XYY so that we can better counsel and care for affected individuals and their families.”

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2023-04-13T11:03:45-04:00Categories: 47,XYY|Tags: , , |
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