Molecular Pathology Laboratory Network

Katy Phelan, PhD, FACMG


Director, Cytogenetics Laboratory

Dr. Katy Phelan is responsible for the technical and administrative functions of the cytogenetics laboratory at Molecular Pathology Laboratory Network, Inc.

She has more than 20 years experience in cytogenetics and is certified by the American Board of Medical Genetics as a clinical cytogeneticist.

For 17 years, Dr. Phelan served as the director of the cytogenetics laboratory at the Greenwood Genetic Center in South Carolina and was director of the genetic diagnostic laboratory at T.C. Thompson Children’s Hospital in Chattanooga for five years. In May 1988, while at the Greenwood Genetic Center, Phelan discovered the 22q13 Deletion syndrome or the Phelan-McDermid syndrome, a rare genetic anomaly caused by the absence of genes at the tip of the long-arm of chromosome 22.

In 1992, she published an article in the American Journal of Medical Genetics called “Cytogenetic, Biochemical and Molecular Analysis of a 22q13 Deletion” outlining her findings. During that same year, Dr. Phelan started a support group to bring families with the Phelan-McDermid syndrome together.

Dr. Phelan obtained her doctoral degree in human genetics from the Medical College of Virginia in Richmond. She is a founding fellow of the American College of Medical Genetics and a member of the American Society of Human Genetics, the Teratology Society, the International Society for Twin Studies, the Association of Genetic Technologists, and the International Society for Prenatal Diagnosis.