Marfan Syndrome

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Marfan Syndrome
XY
Father with
Marfan syndrome
XX
Child with
Normal mother
YX
Normal Child
Marfan syndrome is a hereditary disorder passed from parent to child. Every person has two copies of every gene in the body (except some genes related to gender). One copy of each gene pair is inherited from each parent. It only takes one copy of the defective gene, inherited from one parent, for a person to have Marfan syndrome.
If one parent of a couple has Marfan syndrome, each of their children has a 50 percent chance of inheriting the Marfan gene.
X normal gene
X defective gene
Marfan syndrome is a disorder of connective tissue. Connective tissue holds all the parts of your body together and helps control growth. Connective tissue gets some of its strength from a protein called fibrillin 1. Fibrillin 1 also plays an important role in controlling the growth and development of the body. In Marfan syndrome, the body produces fibrillin 1 that does not work properly. As a result, the connective tissue is not as strong as it should be, and the growth and development of the body are affected.
About 3 out of 4 people with Marfan syndrome inherit the defective gene from a parent. In about 1 out of every 4 people with Marfan syndrome, the gene abnormality occurs due to a chance (spontaneous) mutation of the gene.
Source: National Heart Lung and Blood Institute, National Institutes of Health. www.nhlbi.nih.gov