Cardiff University Rare Genetic Research
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curaregens.bsky.social
Cardiff University Rare Genetic Research
@curaregens.bsky.social
We are a multidisciplinary research team investigating the experiences of individuals with chromosomal conditions/copy number variants (CNVs)

www.linktr.ee/CNVResearch
🌷Happy Monday! 🌷
This week’s post is a quick guide to 3q29 deletion syndrome, which is one of the rare genetic conditions our research focuses on. It is a summary of @unique_charity’s guide, which outlines the potential features of individuals with the deletion.
The guide will be linked below.
March 3, 2025 at 4:22 PM
🧬Happy Friday! 🧬

This week’s post is a quick guide to Kleefstra Syndrome, also known as 9q34.3 Deletion Syndrome. In this post, we summarise the key points in the @unique_charity guide to Kleefstra Syndrome. Thank you for reading!
February 7, 2025 at 12:30 PM
January 30, 2025 at 3:48 PM
16p11.2 Deletion syndrome is one of the CNV’S we study at Cardiff University. This year, we hope to spotlight some of the CNV’s we study to bring awareness and share resources for those affected by them.

visit: www.rarechromo.org. to access support resources and information guides.
January 30, 2025 at 3:48 PM
🧬Happy Wednesday! 🧬
This post is a guide to 22q13 deletion syndrome (also known as Phelan-McDermid Syndrome) , which is one of the rare genetic conditions our research focuses on.

This is a summary of @unique_charity’s guide to 22q13 deletions, which is linked here: rarechromo.org/media/inform...
January 22, 2025 at 4:26 PM