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Transcript of Marfan Syndrome
trait that is both an inherited as well as a chromosomal abnormality. How is Marfan Inherited? Parents of a child with Marfan Syndrome can have any possible combination of dominant and recessive genotypes. Marfan is a defect in the chromosome 15 which tells the body how to make fibrillin 1. Genotypes and Abnormalities Approximately one in every 5,000
people worldwide is diagnosed with
Marfan Syndrome. Prevalence Marfan Syndrome is a genetic disorder
that causes problems in tissues
throughout the body creating medical problems as well as physical features common to those affected by Marfan Syndrome. Passing on Marfan Both parents affected: 75%
One parent affected: 50%
Neither parent affected: 1 in
10,000 Diagnosis Marfan is diagnosed through a thorough physical exam and examination of family history. Specialized tests are also used in diagnosis. Physical Characteristics People with Marfan tend to be tall and slender, have disproportionally long limbs, loose ligaments, chest wall abnormalities, and abnormal curving of the spine. Life Expectancy People with Marfan can live a normal life expectancy with proper care and treatment. Treatment Beta-blocker medications are used to lower blood pressure and reduce stress on the aorta. Limitaions National Marfan Foundation The National Marfan Foundation is an organization that helps people that have Marfan Syndrome as well as increases awareness about Marfan Syndrome. Everyday Life Most people can work, go to school, and have active hobbies.
In most cases, Marfan does not affect a persons quality of life. People with Marfan Syndrome should not play active team sports or lift heavy objects. Cure? There is no cure for Marfan Syndrome and will likely never be a cure. Karyotype Marfan Syndrome is caused by a single mutation on chromosome 15, so it would not be visible.