Cytogenetic abnormalities in dyskeratosis congenita-report of five cases

Abstract

Summary Five patients with dyskeratosis congenita arc described. The cytogenetic studies showed varying frequencies of chromosomal abnormalities which included gaps, chromatid breaks and pulverizations, ranging from 4 to 22%. These findings suggest that chromosomal breakage may be of fundamental importance in the etiology of dyskeratosis congenita and it could represent a genetic marker for the disease.

Dyskeratosis congenita: a literature review

“…Hair is involved in 16 % of patients , as premature hair greying , , or loss , , , , of scalp hair or eyebrows. Sparse body hair has also been reported , .…”

Dyskeratosis congenita: an inherited bone marrow failure syndrome

“…Several studies have reported on the cytogenetic findings in DC cells. Spontaneous chromosomal breaks in DC lymphocytes have been reported in some studies (Scoggins et al, 1971;Morrison, 1974;Aguilar-Martinez et al, 1988), but not in others (Inoue et al, 1973;Schroeder & Hofbauer, 1974;Sirinavin & Trowbridge, 1975;Gutman et al, 1978;Connor & Teague, 1981;Womer et al, 1983;Pai et al, 1989). Excessive spontaneous (Burgdorf et al, 1977) and clastogen-induced (Carter et al, 1979) sister chromatid exchange (SCE) have also been reported in DC lymphocytes.…”

Chromosome abnormalities in cell cultures derived from the leukoplakia of a female patient with dyskeratosis congenita

“…In their letter on chromosome abnormalities in dyskeratosis congenita (DKC), Scappaticci et al [19891 reported on the occurrence of chromosome rearrangements and of an increased rate of chromosome breakage in cultures of fibroblast-like cells derived from unspecified lesions of a DKC patient. Meanwhile, about 20 publications have reported on spontaneous andor induced chromosome aberrations in cell cultures derived from male and female patients with DKC [Inoue et al, 1973;Morrison, 1974;Schroeder and Hofbauer, 1974;Sirinavin and Trowbridge, 1975;Burgdorf et al, 1977;Gutman et al, 1978;Carter et al, 1979;Connor and Teague, 1981;Kano and Fujiwara, 1982;Womer et al, 1983;Juneja et al, 1987;Aguilar-Martinez et al, 1988;Schneider et al, 1988;Scappaticci et al, 1989;Pai et al, 1989a,b;De Bauche et al, 1990;Kehrer et al, submitted]. The various forms of this disease may therefore belong to the group of precancerous syndromes characterized by chromosome instability.…”