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A 23-year-old female asked:

Is marfan sydrome because of an extra or missing chromosome or other mutation?

2 doctor answers2 doctors weighed in
Dr. David Trettin
Orthopedic Surgery 33 years experience
Genetic disorder: Marfan's syndrome is a genetic disorder of connective tissue(ligaments and similar soft tissue) that is caused by a defective gene. It can be passed from generation to generation because it is " autosomal dominant "; meaning only one parent has to have the defective gene for it to be passed on.Pt's w/ marfan's tend to be tall w/ long fingers/ extremities and loose joints; many have heart(valve)abn.
Dr. Zubin Khubchandani
Orthopedic Surgery 25 years experience
Fibrillin gene: Marfan syndrome is caused by an abnormality in the gene that codes for the fibrillin protein in the connective tissue.

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Last updated Dec 9, 2013

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