Clonal chromosome abnormalities with preferential involvement of chromosome 3 in patients with porokeratosis of Mibelli.
Clonal chromosome abnormalities were found in cultured fibroblasts from three sibs and one sporadic case with porokeratosis of Mibelli. Chromosome 3 especially involved region p12-14. This region includes the most common fragile site in humans, and the proximal region of chromosome 3 short arm is involved in a variety of neoplastic conditions. We conclude that porokeratosis of Mibelli, an autosomal dominant disorder, is associated with chromosomal instability. Porokeratosis of Mibelli is known to also be associated with increased susceptibility to malignant disease. The chromosome instability may well predispose to malignancy.
Scappaticci
S
S
Biologia Generale e Genetica Medica Università di Pavia, Italy.
Lambiase
S
S
Orecchia
G
G
Fraccaro
M
M
D000368:Aged; D002478:Cells, Cultured; D002869:Chromosome Aberrations; D002893:Chromosomes, Human, Pair 3; D005260:Female; D005347:Fibroblasts / Q000648:ultrastructure; D006801:Humans; D007621:Karyotyping; D007642:Keratosis / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011230:Precancerous Conditions / Q000235:genetics