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Genetics - Potocki Lupski

Houston, Texas

BCM pediatricians care for children in various clinical and hospital environments.
Potocki-Lupski Syndrome - Department of Molecular and Human Genetics
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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.)

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Highlights

The PTLS 2012 Family Conference Video Is Now Available!

The video includes a 3-DVD set of the conference in its entirety for a cost of $20.

To order a video, please download our order form.