Salvador Has Phelan-McDermid Syndrome – Also Known as PMS or Twenty Two Q One Three

Salvador has Phelan-McDermid syndrome and is missing genes on Chromosome 22

Our son Salvador has Phelan-McDermid syndrome. He is missing genes on his 22nd chromosome — this is also known as 22q13 Deletion Syndrome (spoken as twenty two q one three). The Phelan-McDermid Syndrome  microdeletion found in our son is rarely uncovered by typical genetic screening, [...]