Diminutive somatic deletions in the 5q region lead to a phenotype atypical of classical 5q- syndrome.


Classical 5q- syndrome is an acquired macrocytic anemia of the elderly. Similar to Diamond Blackfan anemia (DBA), an inherited red cell aplasia, the bone marrow is characterized by a paucity of erythroid precursors. RPS14 deletions in combination with other deletions in the region have been implicated as causative of the 5q- syndrome phenotype. We asked… (More)
DOI: 10.1182/blood-2013-06-509935

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