Marfans Syndrome

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The likely inheritance of Marfans syndrome is autosomal dominant and vertically inherited trait. In an autosomal dominant inheritance pattern, a person only needs one copy of the dominant allele from one parent to display the disorder. If they do not have Marfans syndrome, they are not a carrier for the disease. A person who has Marfans has a 50% chance of passing that disease to its offspring, as long as their partner does not have Marfans. If a person with Marfans were to mate with another person with Marfans, the chance of transmission is much higher, at least 75%. We can see by the pedigree that this could be an autosomal dominant disorder in that any persons who have inherited this disorder have done so, vertically, from an affected…show more content…
FBN1 helps control the regulation of the protein Fibrillin-1. Fibrillin is a major part of the connective tissues. Fibrillin in concert with other proteins make up the microfibers that give flexibility and strength to the connective tissues. (NIH, 2012) Fibrillin also helps control the growth and repair factors throughout the body's tissues and organs. Too much growth factor from uncontrolled Fibrillin production leads to overgrowth of the tissue, over flexibility and therefore are at increased risk for injury. Marfans syndrome is a disorder of the connective tissue. Connective tissues are many places in the body including the heart, muscles, eyes, bones, vessels and ligaments. Persons with Marfans are usually tall, thin, with long arms, legs, fingers and toes, they have thin faces and long jaws. Affected persons may have wingspans larger than their height. They may have issues with their heart and aorta. The aorta is at risk for stretching and/or dissecting. Persons also are at risk for mitral valve prolapse and aortic valve regurgitation secondary to weak connective tissue. Problems with the eyes include dislocation of the lens, cataracts or glaucoma. Many may have back pain. (U.S Department of Health and Human Services, 2016)
There is no cure for Marfans. Treatment of Marfans is aimed at controlling symptoms and preventing cardiac injury. Patients may be on a restricted activity level. Treatment of any muscle, back or
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Although there is only a 50% that Alex passes down Marfans to his child, each child has an equal percent chance of inheriting it, regardless is their siblings inherited it. Each child or birth is an independent event and does not take in to account the previous sibs genotype. Alex and Jane also have only three children, which is a small sibship and may not truly show a 50% ratio, like it might if they had 10 children. It does not seem as though there could be a double dominant genotype in Alex, causing a more than 50% chance of passing risk, because that would mean that Mary, Alex’s mother would need to have at least one dominant allele, which she does
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