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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.
A Dose of Reassurance for Parents of Picky Eaters

Marfan -- The Disease

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