Chromosome instability in cultured skin fibroblasts from patients with familial polyposis coli and Peutz-Jeghers' syndrome.

Detailed chromosome studies on cultured skin fibroblasts from patients with familial polyposis coli (FPC) and Peutz-Jeghers' syndrome (PJS) showed an increased incidence of chromosome aberrations at early passage levels, as compared with the age-comparable controls. The occurrence of certain clones of karyotypically abnormal cells was recognized in both groups of patients. There was no clear evidence for the emergence of such clones in the controls within the range of the number of cells observed. Our observations may suggest that the increased chromosome instability in the FPC and PJS patients is due to a genetic predisposition rather than an age-related expression of a normal phenomenon. The present studies, however, have not revealed any specific break or exchange point, although several sites were involved in three or more rearrangements.