Bleomycin-induced chromosome aberrations in lymphocytes derived from patients with lamellar ichthyosis

Patients affected by some genetic skin defects, for example, dyskeratosis c ongenita or scleroderma, may present spontaneous or induced chromosomal fra gility. Hence we performed a cytogenetic analysis in families of patients a ffected by lamellar ichthyosis, an autosomal recessive disease not yet full y characterized at the cellular and molecular levels. Chromosomal fragility was assayed in untreated lymphocyte cultures and in those supplemented wit h aphidicolin or bleomycin. Cells from some affected patients and some of t heir parents showed hypersensitivity to the radiomimetic agent bleomycin. ( C) Elsevier Science Inc., 1998.