Protected: Ring Chromosome 22
We are thrilled to continue our support group program for Phelan-McDermid syndrome caregivers.
We are thrilled to continue our support group program for Phelan-McDermid syndrome caregivers.
Phelan-McDermid syndrome is a rare genetic condition usually caused by a deletion or structural change at the end of chromosome 22, in a region called 22q13. Symptoms and severity can vary widely among people with Phelan-McDermid syndrome. For individuals with a chromosome 22 deletion, the size of the deletion may help explain some of these clinical differences. In general, larger 22q13 deletions are associated with more significant developmental delays and medical concerns. A recent study in 63 people with Phelan-McDermid syndrome further explored these genotype-phenotype relationships, helping researchers better understand how chromosome 22 deletion size may influence symptoms such as language development, motor function and development, and social behaviors as well as medical issues. This study also identified several candidate genes that could also be contributing to the symptoms seen in Phelan-McDermid syndrome.
By: Meagan Hutchinson (PMSF Scientific Program Coordinator) and Lauren Schmitt, PhD (PMSF Chief Science Officer) Date: May 20, 2026 What Did…
By Lauren Schmitt, PhD3/26/2026Cincinnati Children’s Hospital Medical Center (Cincinnati, Ohio) is now home to the first multidisciplinary clinic specializing in Phelan-McDermid…
In June, the Phelan-McDermid Syndrome Foundation hosted a webinar in collaboration with the American Society of Gene & Cell Therapy (ASGCT).…
We have exciting news to share with our Phelan-McDermid syndrome community! This year’s PMSF research grant will help drive groundbreaking science…
The Phelan-McDermid Syndrome Foundation is committed to keeping our community informed about the latest scientific and medical research, including progress in…
Earlier this spring, Dr. Lauren traveled to the Gatlinburg Conference in San Diego, CA, and the International Society for Autism Research…
https://www.healthshots.com/brand-stories/biologic-calls-for-better-genetic-testing-at-acmg-2025/BioLogic Pharma Solutions, in partnership with Neuren Pharmaceuticals, has been on the conference tour this spring to share their research revealing…
In Phelan-McDermid syndrome, you are likely familiar with the terminology and differences between SHANK3 deletions, SHANK3 variations, and even ring chromosomes.…