Cytogenetic investigations on Werner's syndrome, Acrogeria and Keratosis Palmo-Plantaris.
The frequencies of sister chromatid exchanges and of aspecific chromosome aberrations have been investigated in the lymphocytes from a Werner patient, from an Acrogeria patient and from three members of a family with Keratosis Palmo-Plantaris. These investigations point out that: 1) the SCE frequency is significatively enhanced in Werner as in KPP lymphocytes, 2) the frequency of aspecific chromosome aberrations is increased only in Werner lymphocytes, without evidence of variegated translocation mosaicism. The findings confirm that SCE and chromosome aberrations do not necessarily result from the same genetic damage and that SCE may represent the cytological evidence of unexcised non fatal DNA lesions, which occasionally may be responsible for carcinogenesis.
D002869:Chromosome Aberrations; D005528:Foot / Q000503:physiopathology; D006225:Hand / Q000503:physiopathology; D006801:Humans; D007645:Keratoderma, Palmoplantar / Q000235:genetics*; D008297:Male; D010375:Pedigree; D011371:Progeria / Q000235:genetics*; D012854:Sister Chromatid Exchange; D013577:Syndrome; D014898:Werner Syndrome / Q000235:genetics*