Recurrence of Marfan syndrome as a result of parental germ-line mosaicism for an FBN1 mutation

Studies support a link between Marfan syndrome and parental genetic origin. This connective tissue disorder has been identified through genotyping, but required sensitive and quantitative solid-phase minisequencing to eliminate possible carrier locations. Since the mutation could not be identified in a paternal sperm sample, the mosaicism may be maternal in origin.