ArticleGenetics in medicine open2026
Clinical, cytogenetic, and molecular insights from 32 years of the Portuguese Fanconi anemia cohort.
Article in Genetics in medicine open, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Purpose: Fanconi anemia (FA) is a rare monogenic chromosome breakage syndrome that presents with variable morphologic abnormalities and progressive bone marrow failure. Based on over 30 years of diagnostic experience, our main goal was to describe the Portuguese FA population and assess potential clinical and analytical phenotypic correlations with both molecular variants and chromosome instability (CI). Methods: We evaluated the in-house database from the Cytogenetics Laboratory of the School of Medicine and Biomedical Sciences, University of Porto, which has provided nationwide CI testing since 1993. Results: Ninety-three FA cases were diagnosed between January 1993 and October 2025; 1 was diagnosed in the prenatal setting due to severe malformations. Molecular characterization was available for 50 of these cases. Of these, 45 carried Conclusion: Our data allowed the characterization of the Portuguese FA cohort from clinical, cytogenetic, and molecular perspectives, including the identification of population-specific molecular findings and associations between CI and clinical features. Findings related to cytogenetic assessment proved useful not only for diagnosis but also for FA follow-up and prognostic purposes.
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