The Phelan-McDermid Syndrome (PMS) , is a genetic condition which meant a piece on chromosome 22, long arm (q), region 1, band three, sub-band three did not exist or had been compromised. The original name for PMS was 22q13 deletion syndrome. Today there are about four hundred individuals in the world with this chromosome deletion. The condition is named for Dr. Katy Phelan and Dr. Heather McDermid who first identified the condition. Dr. Katy Phelan brought the original first fifteen families together into what is now the Phelan-McDermid Syndrome Foundation.
Video courtesy – JeansforGenesUK