22Q11 Ireland

And again!
Áine and Mary Kate 😊

taking part in the Special Olympics
Áine and Matt 😊
Do we have a pic of Mary Kate Trish Drake

Presenting symptoms in adults with the 22q11 deletion syndrome

Presenting symptoms in adults with the 22q11 deletion syndrome A definitive molecular diagnosis of 22q11 Deletion Syndrome (22q11DS) even if occurring later in life, has important genetic, medical and emotional impact on the patients and their families. The aim of this study is to describe presenting symptoms

You might just spot a familiar face on the bus 🤗 Best of luck to Miss Áine and all of the SO athletes taking part in the games this weekend.
"Let me win but if I cannot win let me be brave in the attempt"

Waterford contingent travels with pride to Special Olympics Ireland Games Sixty-two athletes from Waterford are heading to the Special Olympics Ireland Games in Dublin, with organisers saying it is the largest county

What’s New in 22q - Podcast Episode 16 - Congenital Heart Disease in 22q11.2 🎙️ Podcast Description:This podcast focus at recent scientific stu...

Interaction of the craniofacial complex and velopharyngeal musculature on speech resonance in children with 22q11.2 deletion syndrome: An MRI analysis

Interaction of the craniofacial complex and velopharyngeal musculature on speech resonance in children with 22q11.2 deletion syndrome: An MRI analysis - PubMed There are limited MRI studies of craniofacial and velopharyngeal features in children with 22q11.2 deletion syndrome (22q11.2DS) and to date, none have explored the potential relationship between these features and the speech phenotype. The purpose of this study was to examine the relationship betwe...

With only two weeks to go until Rare Chromo Day, now is the time to start planning ahead.

There are lots of ways to get involved. Here's a few options:
- Take on a fundraising challenge
- Donate directly to our Rare Chromo Day campaign
- Get your personalised 'I support' image
- Share our posts to help raise awareness
- Share your story with us and we'll post it to our channels
- Get your child's school involved by giving a presentation or organising a fundraising event

All the ways to get involved can be found on our dedicated web page: rarechromo.org/rare-chromo-day-2026

Self-care is taking rests when needed. What type(s) of rest do you need right now?

A new webinar Series “Transition in Healthcare:
Turning recommendations into practise

Patient Partnership Webinar Series: Transition in Healthcare Register for our new webinar series exploring transition in healthcare

The Sleep Detectives are recruiting young people between the ages 6 and 21 who have a genetic diagnosis of: 22q11.2, 1q21.1 and 16p11.2 duplication or deletion. Siblings without a genetic diagnosis can also take part!

Learn about the study in the post or by visiting their site here: https://sleepdetectives.blogs.bristol.ac.uk/
Or contact [email protected] to get involved

Sleep Detectives is a project conducted by the rare genetic research team at Cardiff University investigating how sleep affects learning and behaviour.