Genetic Testing for Marfan Syndrome

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.  

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Written by/reviewed by: Arthur Schoenstadt, MD
Last reviewed by: Arthur Schoenstadt, MD
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