Cytogenetic abnormalities in dyskeratosis congenita--report of five cases.

Autor: Aguilar-Martinez, A., Lautre-Ecenarro, M.J., Urbina-González, F., Crist⊙bai-Gil, M.C., Guerra-Rodriguez, P., Garc&idot;a-Pėrez, A.
Předmět:
Zdroj: Clinical & Experimental Dermatology; Mar1988, Vol. 13 Issue 2, p100-104, 5p
Abstrakt: Five patients with dyskeratosis congenita are described. The cytogenetic studies showed varying frequencies of chromosomal abnofinalities 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. [ABSTRACT FROM AUTHOR]
Databáze: Complementary Index