Chromosome changes in lymphocytes of patients with scleroderma

The authors have analyzed cytogenetically 28 cultured lymphocytes from females with Diffuse Scleroderma and 28 female controls between 30 and 70 years of age. Recurrent chromosome abnormalities were +8, +X, -X, and the PCD(X) phenomenon. Triplo X cells were significatively more frequent in patients than in controls. The incidence of +X and PCD(X) was significatively higher in the patients between 30 and 50 years of age, while the frequency of -X cells was higher in controls than in patients. None of these chromosome changes was correlated with the presence of anticentromere antibodies (ACA) in the patients' serum. Random structural chromosome abnormalities were also observed in the patients, but no break point clustering was observed. The incidence of chromosome breaks was significatively higher in patients than in controls. These data suggest a general tendency of females with Scleroderma to develop X polisomies and +X and the PCD(X) phenomenon may be considered Scleroderma related in younger patients.