Adults 17 years and older needed!
Since the first patient with duplication 17p11.2 was evaluated at Texas Children’s Hospital in 1996, we have had the opportunity to evaluate dozens of children with what is now called Potocki-Lupski syndrome. These clinical and laboratory evaluations have allowed us to publish several articles in the medical literature. These articles are easily accessible to physicians around the world so that they can become more aware of and learn about PTLS and thereby provide better medical and developmental care for children with this chromosomal duplication.
Sadly, there is very little available in the medical literature regarding the clinical, intellectual, and behavioral features in adults with PTLS. Because of this, it has been challenging for physicians to make medical recommendations and give accurate information to families like yours who have teenagers and young adults with PTLS.
With this in mind Dr. Potocki, Dr. Lupski and Dr. Neira are inviting individuals with PTLS who are age 17 years or older (and their parents or guardians) to help us in our quest to gather information! We know that a trip to TCH is not feasible for all of you, but we welcome the opportunity to collaborate with you and try to better understand PTLS. We would like to initiate these studies with a questionnaire, and with your permission follow that with a telephone interview and review of medical records (including your Chromosomal Microarray or FISH test that confirmed the PTLS diagnosis).
We will review this information very carefully and compile it in a format to be published in the medical literature (no names will be used of course)! Our ultimate goal is to provide valuable information about PTLS for families, teachers, and health care providers worldwide, so that adults with PTLS can have the best care possible. If you would like to participate in this study, or if you have questions please email Dr. Neira (Juanita.Neira@bcm.edu) at Baylor College of Medicine.