Fanconi anemia (FA)

Fanconi anemia (hereditary pancytopenia)
(McKusick 227650) is a malformation syndrome
(1) with variable clinical expression.
Growth deficiency (2), hypoplastic or absent
thumbs (3), and short or absent radii are characteristic
physical signs.
FA cells are hypersensitive to DNA-crosslinking
agents, such as diepoxybutane (DEB). Several
complementation groups can be distinguished.
Three FA genes have been identified, at chromosome
16q24.3 (FAA), 9q22.3 (FAC), and 3p22–
26 (FAD). FAA is the most prevalent group in
60–65% of patients.