Chromosome fragility in patients with Fanconi anaemia: diagnostic implications and clinical impact.

doi:10.1136/jmg.2010.084210

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Article

Chromosome fragility in patients with Fanconi anaemia: diagnostic implications and clinical impact.

Journal of medical genetics - 1 Apr 2011

Castella Maria, Pujol Roser, Callén Elsa, Ramírez Maria J, Casado José A, Talavera Maria, Ferro Teresa, Muñoz Arturo, Sevilla Julián, Madero Luis, Cela Elena, Beléndez Cristina, de Heredia Cristina Díaz, Olivé Teresa, de Toledo José Sánchez, Badell Isabel, Estella Jesús, Dasí Ángeles, Rodríguez-Villa Antonia, Gómez Pedro, Tapia María, Molinés Antonio, Figuera Ángela, Bueren Juan A, Surrallés Jordi

Abstract excerpt

BACKGROUND: Fanconi anaemia (FA) is a rare syndrome characterized by bone marrow failure, malformations and cancer predisposition. Chromosome fragility induced by DNA interstrand crosslink (ICL)-inducing agents such as diepoxybutane (DEB) or mitomycin C (MMC) is the 'gold standard' test for the diagnosis of FA. OBJECTIVE: To study the variability, the diagnostic implications and the clinical impact of chromosome...

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PMID: 21217111
DOI: 10.1136/jmg.2010.084210

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