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1p36 Deletion Syndrome (cont.)
Charles Patrick Davis, MD, PhD
Dr. Charles "Pat" Davis, MD, PhD, is a board certified Emergency Medicine doctor who currently practices as a consultant and staff member for hospitals. He has a PhD in Microbiology (UT at Austin), and the MD (Univ. Texas Medical Branch, Galveston). He is a Clinical Professor (retired) in the Division of Emergency Medicine, UT Health Science Center at San Antonio, and has been the Chief of Emergency Medicine at UT Medical Branch and at UTHSCSA with over 250 publications.
William C. Shiel Jr., MD, FACP, FACR
Dr. Shiel received a Bachelor of Science degree with honors from the University of Notre Dame. There he was involved in research in radiation biology and received the Huisking Scholarship. After graduating from St. Louis University School of Medicine, he completed his Internal Medicine residency and Rheumatology fellowship at the University of California, Irvine. He is board-certified in Internal Medicine and Rheumatology.
In this Article
- 1p36 deletion syndrome facts
- What is and what causes 1p36 deletion syndrome?
- What are the characteristics, signs, and symptoms of 1p36 deletion syndrome?
- What is the treatment for 1p36 deletion syndrome?
- What is the prognosis and life expectancy for 1p36 deletion syndrome?
- Conclusion
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Conclusion
This syndrome obtained some additional press in June 2011, when Robert Horry, who has played professional basketball for the Rockets, Suns, Lakers, and Spurs and has seven championship rings, lost his 17 year old daughter, Ashlyn, to this rare disease on June 14th, 2011. Although she had many problems, she was a loved and loving member of the Horry family. When symptoms were first noted, the disease had not yet been named but the family supported Ashlyn to the best of their ability and even established a foundation (see reference 2) for disabled youth in 2008 named the Ashlyn Horry Foundation. Although I never met Ashlyn, as a parent, I am sorry for the Horry family's loss of their daughter and admire the efforts they made to give Ashlyn and others a better life.
REFERENCES:
rarechromo.org. 1p36 Study Day Report.
The Ashlyn Horry Foundation. About Us.
U.S. National Library of Medicine, National Institutes of Health. 1p36 Deletion Syndrome.
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