Cytogenetic abnormalities in dyskeratosis congenita—report of five cases |
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| Authors: | A AGUILAR-MARTINHZ MJ LAUTRE-ECENARRO† F URBINA-GONZÁLEZ MC CRISTÓBAL-GIL P GUERRA-RODRIGUEZ A GARCÍA-PÉREZ |
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| Institution: | Department of dermatology, Universidad Complutense de Madrid, Spain;department of Cytogenetics, Hospital Clínico de San Carlos. Universidad Complutense de Madrid, Spain |
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| Abstract: | 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. |
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