Genetic Testing for Marfan Syndrome
How Does the Defect Occur?
There are two ways in which a person can have the defective gene that causes Marfan syndrome. The defective gene can be inherited, or it can be the result of a spontaneous mutation at the time of conception. Consider the following:
- A parent who has Marfan syndrome has a 50 percent chance of passing the disease on to his or her child
- About 25 percent of Marfan syndrome cases result from a new mutation in the gene
- Two unaffected parents have a 1 in 10,000 chance of having a child with Marfan syndrome.