Article
Diminutive somatic deletions in the 5q region lead to a phenotype atypical of classical 5q- syndrome.
Blood - 3 Oct 2013
Vlachos Adrianna, Farrar Jason E, Atsidaftos Eva, Muir Ellen, Narla Anupama, Markello Thomas C, Singh Sharon A, Landowski Michael, Gazda Hanna T, Blanc Lionel, Liu Johnson M, Ellis Steven R, Arceci Robert J, Ebert Benjamin L, Bodine David M, Lipton Jeffrey M
Abstract excerpt
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 whether smaller, less easily detectable deletions could...
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