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Marfan Syndrome

Marfan Syndrome is one of many conginenital heart defects that plague many new-borns. One in every one hundred babies born has at least one type of a congenital heart defect. But, only one in every twenty thousand births has this certain type of congenital heart defect. It is caused by mutations of the fibrillin I precursor (FBNI). The gene for Marfan syndrome is nine thousand six hundred and sixty two bases long.
There is only one pair of genes that cause Marfan syndrome. It can be inherited from a parent affected by the condition or from an unaffected parent who had/has a mutation in his sperm or her egg. Only one of the parents has to be infected with it for the child to have it. Two thirds of people that have Marfan syndrome got it from a parent with it and a fourth of them occur as a result of spontaneous mutation of the gene that causes Marfan syndrome.
Marfan syndrome is autosomal dominant heterozygous, but can in some rare occasions it can be autosomal recess...

Posted by: Tricia F. Doyle

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