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Where (what choromosome) is the defective gene located if u have marfan syndrome??? :~D? |
Where (what choromosome) is the defective gene located if u have marfan syndrome??? :~D? Marfan syndrome is caused by mutations in one member of a pair of genes called the fibrillin genes. These genes are located on chromosome 15, one of the 23 pairs of human chromosomes. combination with the action of other genes, leads to the formation of faulty fibrillin. Marfan syndrome consists of connective tissue anomalies resulting in ocular, skeletal, and cardiovascular abnormalities (eg, dilation of ascending aorta, which can lead to aortic dissection). Diagnosis is clinical. Treatment may include prophylactic 尾-blockers to slow dilation of the ascending aorta or prophylactic aortic surgery.(Merck) To be short and sweet: |
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"Marfan syndrome has been linked to a defect in the FBN1 gene on chromosome 15,[6] which encodes a glycoprotein called fibrillin-1. Fibrillin is essential for the formation of the elastic fibe... Marfan syndrome is a genetic connective tissue disorder often characterized by unusually long limbs, great stature or long toes or fingers in proportion to height. The disease may also affect numer... ... It is fairly certain that he did--by the looks of him at least--and that is some of the interested medical communities opinion. A good way to tell, without digging up and disturbing his humble rema... I'm not sure that this is all that common in Marfan's sufferers.Nicolo Paganini was one of the greatist violinists that ever lived and he never suffered from Carpal Tunnel Syndrome.He als... Hi Loving Life (great name) Here are some action ideas to get healed. Causes of Hearing Disorders Among the most common causes of hearing disorders are allergies, antibiotic and other drug u... try www.emedicine.com its more informative ...It is a good thing that you are concerned, but how did you come upon Marfans? One thing I have to mention is that it is NOT always inherited, about 25% of people with Marfans are spontaneous mut... |
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