Molecular Pathology Laboratory Network

There are hundreds of families in the U.S. and the around the world with children undiagnosed with Phelan-McDermid syndrome, a rare genetic anomaly that affects the development of the human nervous system.

To bring more awareness to the disorder, May 19 is recognized as Phelan-McDermid Syndrome Day. It was on this day in 1988 that MPLN's cytogenetics director, Dr. Katy Phelan identified the 22q13 deletion while performing chromosome analysis on a newborn at Greenwood Genetic Center.

For more information about the Phelan-McDermid Syndrome or the support group, visit www.22q13.org.