Fanconi anemia (FA) is a genetically heterogeneous disease with at least eight 
genes on the basis of complementation groups (FAA to FAH). The analysis of the 
FAA gene in patients suggested the existence of deletions, none of which have 
thus far been characterized at the genomic level. A detailed restriction map of 
the FAA gene with the fine localization of its 43 exons is reported in this 
paper. We also describe the first two genomic deletions, one of 5.0 kb and 
another of at least 120 kb. The former was likely the result of a recombination 
between related Alu sequences. Since these interspersed repeats could generate 
deletions and insertions by mispairing, rearrangements of this gene are a 
possibility in those FA families in which FAA mutations have not been 
identified.