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Marfan's Syndrome

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Darwin Lee

on 22 February 2013

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Transcript of Marfan's Syndrome

Darwin Lee
Period 2 Marfan's Syndrome The genotype/karyotype of individuals who have the disorder. What is Mafan's Syndrome? How is the disorder inherited? Marfan's Syndrome is when there is a defect/mutation in one of the proteins that are the main building blocks of the body's cells. The protein is known as fibrillin, which is abundant in tissues such as bones, ligaments, major blood vessels, and valves of the heart. When this protein is scanty or it's structure is defected, a wide variety of symptoms may appear. The genotype of the individual who doesn't have the disorder. As stated in the previous slide, a person diagnosed with Marfan's Syndrome would have no different karyotype than from a normal human. So the karyotype would stay the same except there wouldn't be that little mutation on chromosome 15. How many people live with this disorder in the U.S? In the U.S., it is estimated that over 200,000+ people are affected with Marfan's Syndrome or a related disorder similar to Marfan's Syndrome. How many people live with this disorder Worldwide? About 1 in every 5,000 people are affected by Marfan's Syndrome. Marfan's Syndrome is believed to affect 1 in every 10,000 people in America. About 70% of the time, Marfan's Syndrome is inherited from a parent passing it down to their offspring. The pattern of inheritance this disease follows is autosomal dominance. A person diagnosed with Marfan's Syndrome would have no different karyotype than from a normal person. This is because Marfan's Syndrome is caused by as little as one mutation to one gene; this is most commonly known as fibrillin-1/chromosome 15. This picture shows that Karyotypes can only be discovered if they are large enough to be visualized with a microscope, like seen in Down's Syndrome in which there is an extra chromosome 21. Phenotypes of individuals who have the disorder [such as symptoms, complications, etc.] The most visible effects are those that affect the bones and joints: being unusually tall
long arms/legs
"spidery fingers"
face may be narrow with a high arched palate [the roof of your mouth]
crowded teeth
loose joints [most particularly hands and wrist]
may also be diagnosed with scoliosis [ abnormal curving of the spine. Everyone's spine curves a little but, this curves it too much.]
breast bone may sink forming a valley between your ribs and bulge forward
ectopia lentus [displacement of the lens] it doesn't cause blindness, but vision becomes less sharp.
nearsight [myopia]heart valves may not close properly causing blood to leak back, rather than flow forward causing the heart to work harder to make up for the diminished flow.
most dangerous is weakening the body's largest artery - the aorta, since it's walls is now weakened due to fibrillin deficiency which can cause an aneurysm. A split may cause death due to massive internal bleeding. Treatments/Cures Early treatment can help reduce some of the harmful effects of the disorder: Physical therapy, a supportive brace or surgery can be used to correct spinal deformation.
Orthodontics can widen the jaw which allows extra room for the crowded teeth.
Usually glasses are prescripted for weakened vision.
Individuals are encouraged to avoid strenuous exercise and heavy exertion to prevent blood pressure from rising.
Medicine to reduce blood pressure.
Given antibiotics whenever they undergo any medical procedures/treatment [dental as well] to help prevent penetration of blood vessels.
Surgery is used to repair or replace a faulty blood vessel.
If the aorta is greatly enlarged or damaged, a synthetic tube may be surgically inserted to replace the damaged section. Bibliography Works Cited
Bunch, Bryan H. Diseases. Danbury, CT: Grolier Educational, 1997. Print.

"Marfan Syndrome." - Genetics Home Reference. N.p., n.d. Web. 21 Feb. 2013.
Marfan's Syndrome Karyotype?" - Mcrh.org. N.p., n.d. Web. 21 Feb. 2013.

":: National Marfan Foundation ::." :: National Marfan Foundation ::. N.p., n.d. Web. 21 Feb. 2013.

":: National Marfan Foundation ::." :: National Marfan Foundation ::. N.p., n.d. Web. 21 Feb. 2013.
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