The authors have analyzed cytogenetically 28 cultured lymphocytes from
females with Diffuse Scleroderma and 28 female controls between 30 an
d 70 years of age. Recurrent chromosome abnormalities were +8, +X, -X,
and the PCD(X) phenomenon. Triple X cells were significatively more f
requent in patients than in controls. The incidence of +X and PCD(X) w
as significatively higher in the patients between 30 and 50 years of a
ge, while the frequency of -X cells was higher in controls than in pat
ients. None of these chromosome changes was correlated with the presen
ce of anticentromere antibodies (ACA) in the patients' serum. Random s
tructural chromosome abnormalities were also observed in the patients,
but no break point clustering was observed. The incidence of chromoso
me breaks was significatively higher in patients than in controls. The
se data suggest a general tendency of females with Scleroderma to deve
lop X polisomies and +X and the PCD(X) phenomenon may be considered Sc
leroderma related in younger patients.