Abstract

LAVAUT SANCHEZ, Kalia et al. Use of the chromosome rupture test in the study of Fanconi's anemia. Rev Cubana Hematol Inmunol Hemoter [online]. 2008, vol.24, n.1, pp. 0-0. ISSN 1561-2996.

Fanconi's anemia is a recurrent genetic disorder with both patterns of heredity, autosomal and linked to sex. It is characterized by different congenital malformations, bone marrow failure and an elevated predisposition to develop solid tumors and acute myeloid leukemia. It is a monogenic disease with cytogenetic expression given by chromosomal instability, both spontaneous and provoked by agents inducing cross-links in the DNA chains. Two male siblings aged 5 and 7 years old, with congenital malformations and medullar insufficiency were presented. The study of chromosome rupture was conducted by using diepoxybutane. Multiple ruptures and radial figures were observed, which confirmed the diagnosis.

Keywords : Fanconi's anemia; chromosome ruptures; diepoxybutane.

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