1p36 Deletion Syndrome
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.
- What is 1p36 deletion syndrome?
- 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?
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What is 1p36 deletion syndrome?
- Introduction to the 1p36 deletion syndrome – how individuals get chromosomes with missing DNA
- 1p36 deletion syndrome stands for the following: 1 is the chromosome number that has deleted DNA, p is the short arm of the chromosome (shortest length of DNA above the centromere) that contains designated area 36 that is missing DNA
- DNA missing from area 1p36 is responsible for the broad range of symptoms such as changes in facial structures, severe learning disabilities, severe oral communication problems, heart, muscle, breathing, eye and other problems
- Not all affected individuals develop all problems; the severity is likely related to which areas and how much DNA is missing in 1p36
- Treatment for 1p36 deletion syndrome is mainly aimed at reducing the severity of symptoms with consultations with experts in the medical, surgical and behavior fields.
- Each person with 1p36 deletion syndrome is an individual with problems specifically related to their 1p36 DNA loss; with appropriate consultation and effort on both the affected individual and their family or caregiver, a chance to develop rewarding relationships should be available for many people
- The genetic problem is so new that life expectancy and overall prognosis are not yet well defined; there are reports that some individuals with 1p36 deletion syndrome live to adulthood.
What causes 1p36 deletion syndrome?
As humans, we all should share 23 chromosomes from each parent, for a total of 46. But what happens when some of the genetic material (genes made from DNA) in the chromosomes is missing? The outcome depends on the functions that the genetic material controls. Unfortunately, in a relatively newly identified problem, 1p36 deletion syndrome, (first deletion noted in 1981 and in 1997, the clinical features first outlined), a small segment of missing DNA results in large problems for individuals missing the DNA and for their families.
The name of the problem is 1p36 deletion syndrome. This numeric name means that it affects chromosome # 1, the largest human chromosome. It precisely affects the area on the #1 chromosome that is on a short arm of the chromosome (p means the short arm above the centromere that joins the two parental copies of chromosome 1, and area 36 is where the missing DNA should be located). In recent years (about 2005-08), recent diagnostic tests known as fluorescent in situ hybridization (FISH) and microarray comparative genomic hybridization (array CGH) have been developed to definitively diagnose the 1p36 deletion syndrome. CGH may determine about how much DNA is missing.
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