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Accession IconGSE42570

5q- Myelodysplastic Syndrome Masquerading as Diamond Blackfan Anemia

Organism Icon Homo sapiens
Sample Icon 3 Downloadable Samples
Technology Badge Icon Affymetrix Human Genome U133A 2.0 Array (hgu133a2)

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Description
Diamond Blackfan anemia is a congenital bone marrow failure syndrome characterized by hypoproliferative anemia, often with associated physical abnormalities. Perturbations of the ribosome appear critically important to the development of DBA, as alterations in 9 different ribosomal protein genes have been identified in multiple unrelated families, along with rarer abnormalities of additional ribosomal proteins. However, presently only 50-60% of patients have an identifiable genetic lesion by ribosomal protein gene sequencing. Using genome-wide SNP array to evaluate for regions of recurrent copy variation, we identified 2 patients with mosaic loss in the region of the the chromosome 5-deleted region involved in somatically-acquired 5q- myelodysplastic syndrome.
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