Marfan Syndrome Case Study

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1. Describe the symptoms of Marfan syndrome. What organs does it affect? • Marfan syndrome is a genetic disorder that affects the body’s connective tissue. The Connective tissue holds the body’s cells, organs and of course the tissue. It also plays an important role in helping the body grow and develop, as it should. 2. What is fibrillin? Where is it found in the body? • Fibrillin is glycoproteins (proteins that contain oligosaccharide chains) and is essential for the formation of elastic fibers found in connective tissue. Fibrillin is produced into the extracellular matrix by fibroblasts and it also becomes incorporated 3. Why does Marfan syndrome vary in its severity? • The severity of Marfan syndrome can vary greatly from case to case. Marfan syndrome is inherited as an autosomal dominant trait, which means that only one abnormal copy of the Marfan gene is inherited from one parent and is sufficient to have the condition. Also there are many spots in the gene where a mutation could occur and some cause more damage to the protein. Last but not least, it is also because of a defect. 4.…show more content…
What points did Drs. McKusick and Williams state in favor of testing Abraham Lincoln’s bone DNA? • Drs. McKusick and Williams said DNA from a dead person is potentially very revealing. 5. What is congenital contractual arachnodactyly? • Congenital contractual arachnodactyly (CCA) is characterized by a Marfan-like appearance. These appearances could be tall, slender habitus in which arm span exceeds height along with long slender fingers and toes, which is arachnodactyly. 6. Why would it be impossible to find a woman (direct descendent) to prove that John Wilkes Booth’s remains were authentic? • It would be impossible because they would have to analyze mitochondrial DNA which is found in eggs and not sperm but it is transmitted through the ages from mother to
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    Marfan syndrome is a moderately common, autosomal dominant disorder that affects the body’s connective tissue. Being autosomal dominant means that only one mutated gene from one parent can cause this disorder. Connective tissue is the tissue that holds the body’s cells and organs together. This disorder often affects the heart and the aorta, but can also affect tissues found all around the body, like blood vessels, bones, joints, eyes, and the heart. Although, connective tissue is made of different

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