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
This website 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.
Since 1990, Dr. Lupski has been involved in the clinical and molecular investigations of deletion 17p11.2 (Smith-Magenis Syndrome or SMS) and uncovered the molecular mechanism of this microdeletion syndrome—thus establishing a molecular model for other microdeletion syndromes as well.
Dr. Potocki joined Dr. Lupski’s laboratory as a postdoctoral fellow in 1995 to further investigate the clinical features of SMS. In 2000, they established the molecular mechanism for duplication 17p11.2 as the reciprocal product of the SMS microdeletion, and since that time have collaborated on investigations of Potocki-Lupski Syndrome (PTLS).
Presently, Dr. Potocki conducts the clinical research study at Texas Children's Hospital and Dr. Lupski is the principal investigator of the molecular research at Baylor College of Medicine. Together, they have worked to define both the clinical and molecular characteristics of PTLS.