Welcome to the Potocki-Lupski (dup 17p11.2) Syndrome web site

Duplication of chromosome 17p11.2—also known as the Potocki-Lupski Syndrome (PTLS) (OMIM# 610883), or dup 17p syndrome– is a newly recognized condition which 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, including a clinical research study at Texas Children’s Hospital (Principal Investigator: Lorraine Potocki, M.D) and a molecular research study at Baylor College of Medicine (Principal Investigator: James R. Lupski, M.D., Ph.D.).