Article
Mosaic segmental uniparental isodisomy and progressive clonal selection: a common mechanism of late onset β-thalassemia major.
Haematologica - 1 May 2013
Harteveld Cornelis L, Refaldi Chiara, Giambona Antonino, Ruivenkamp Claudia A L, Hoffer Mariëtte J V, Pijpe Jeroen, De Knijff Peter, Borgna-Pignatti Caterina, Maggio Aurelio, Cappellini Maria D, Giordano Piero C
Abstract excerpt
Genomic DNA of 3 patients, born as healthy carriers and developing a late-onset severe transfusion-dependent beta-thalassemia major was studied by high-density genome wide SNP array analysis. A mosaic loss of heterozygosity for almost the entire 11p was found, not attributable to deletions but involving mosaicism for segmental paternal isodisomy of 11p. Mitotic recombination leading to mosaic segmental...
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