07/19/2022
THE HISTORY OF Phelan-McDermid Syndrome written by Dr. Katy Phelan
In 1988 while directing the chromosome lab at the Greenwood Genetic Center (GGC) in South Carolina, I found a deletion of the long arm of chromosome 22 (22q) in a newborn with hypotonia.
With Dr. Curtis Rogers and others from GGC, I reported the case at a genetics meeting and enlisted Heather McDermid’s help to perform molecular genetic studies.
After we published the case, families who also had a child with deletion of 22q began to contact me.
From talking with families, I learned about the features the children shared, I understood that the families wanted a name for the condition other than “deletion 22q13”, and I realized that it was important for them to meet other families.
In 1998 I wrote a grant to the Mikel Foundation for a family support group meeting which GGC also supported. At the time I wrote the grant, I was aware of 9 families. This number quickly increased as news of the family meeting spread.
In August of 1998, 20 of the 23 known families attended the meeting where we decided to reconvene every two years. In 2002 the families suggested naming the rare condition “Phelan-McDermid syndrome” after me for getting the ball rolling on family support and clinical research, and Heather McDermid for her key contributions in molecular characterization of the deletion.
