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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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For Families:

Having a child with a rare disorder such as Potocki-Lupski Syndrome (PTLS) can be isolating and families often benefit from “meeting” other parents whose children have the same condition.

Support from other parents and families may be very helpful as you navigate the healthcare system and learn more about PTLS. Perhaps the most important resource is the yahoo group web site created and maintained by parents to share their experiences about living with PTLS. Here, parents share informal daily life questions and answers about their children and the challenges and triumphs they experience. Another resource, Unique, is a charity based in the United Kingdom that provides information and support on rare chromosome disorders. In addition, our genetic counselor, Patti Furman, is available to answer general questions via phone or e-mail.

For Healthcare Professionals:

Since PTLS is a newly described syndrome with a small number of cases in the medical literature, and array CGH is also a relatively new technology, physicians and other healthcare providers may wish to use the following resources:

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