Fanconi anemia (FA) is a rare, autosomal recessive condition characterized by growth retardation, thumb abnormalities/radial aplasia, pigmentary anomalies and hematological disorders, including eventually MDS and AML. FA patients have a DNA repair defect that leads to an increased rate of spontaneous chromosomal breakage. When FA patients’ blood is exposed to mitomycin C (MMC) and/or diepoxybutane (DEB), there is a dramatic increase in the rate of chromosomal breaks, as well as the formation of chromosomal radial figures.

Individuals clinically suspected of being affected with FA.