CYTOGENETIC STUDIES OF SKIN FIBROBLAST-CULTURES FROM A KARYOTYPICALLYNORMAL FEMALE WITH DYSKERATOSIS-CONGENITA

Skin fibroblast cultures from a female patient with dyskeratosis conge nita revealed markedly increased frequencies of chromosomal breaks, hy podiploidy, and premature centromere disjunction. The frequencies of m itotic disturbances, like ana- and telophase bridges, lagging chromoso mes, and micronuclei were almost as dramatically elevated as in cultur es from two severely affected patients with Fanconi anemia. Provided t hat our patient is representative for an autosomal form of dyskeratosi s congenita, this type of the disease seems to be characterized by chr omosomal instability with a characteristic pattern of cytogenetic abno rmalities.