Potocki-Lupski (dup17p11.2) Syndrome
Duplication of chromosome 17p11.2—also known as the Potocki-Lupski Syndrome (PTLS) (OMIM# 610883), or dup 17p syndrome– is a newly recognized condition that can cause a variety of health problems including:
- Low muscle tone
- Poor feeding
- Heart defects
- Developmental delay
- Speech and learning problems
- Autism
This web site is intended to provide information to patients, families, and physicians and to develop a support network for those coping with this condition. This site is hosted by Baylor College of Medicine.
We have two active protocols regarding PTLS:
- A clinical research study at Texas Children's Hospital (Principal Investigator: Lorraine Potocki, M.D.)
- A molecular research study at Baylor College of Medicine (Principal Investigator: James R. Lupski, M.D., Ph.D.)