GENOMIC INSTABILITY ASSOCIATED WITH LIMB DEFECTS - CASE-REPORT AND REVIEW OF THE LITERATURE

We report a child in whom we observed markedly increased genome-wide s pontaneous chromosomal breakage in both leucocytes and fibroblasts ass ociated with severe growth retardation, radial aplasia, leucopenia, mi ld hydrocephalus and an unusual trichodystrophy. Exposure to DNA cross -linking agents diepoxybutane, mitomycin-C and mustine hydrochloride i n this case did not result in the increased chromosome breakage seen i n Fanconi anaemia. It may be that this child has a defect in postrepli cative DNA repair interacting with the protein components deficient in FA.