Cytogenetic and Molecular Diagnosis of Fanconi Anemia

Diagnóstico citogenético e molecular da anemia de Fanconi hyper-pigmentation, kidney and urinary tract mal-formations, and high risk of developing a malignant disease, particularly acute myelogenous leukaemia.1 Somatic cell fusion studies have shown that FA is genetically heterogeneous, resulting from mutations in at least eight complementary gene groups (FANC A, B, C, D1, D2, E, F, and G).1 Lymphocytes culture shows an increased sensitivity to the clastogenic agents diepoxybutane (DEB) or mytomycin (MMC). These agents induce DNA damage, mutations, chromosomal rearrangements and cell death in FA patients.2 The DEB test is considered as the gold Fanconi anaemia (FA) is an autosomal recessive disorder associated with a very high frequency of bon