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

Adrianna Vlachos, Jason E. Farrar, Eva Atsidaftos, Ellen Muir, Anupama Narla, Thomas C. Markello, Sharon A. Singh, Michael Landowski, Hanna T. Gazda, Lionel Blanc, Johnson M. Liu, Steven R. Ellis, Robert J. Arceci, Benjamin L. Ebert, David M. Bodine, Jeffrey M. Lipton

Research output: Contribution to journalArticlepeer-review

11 Scopus citations


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 account for a syndrome with a modified phenotype. We employed single-nucleotide polymorphism array genotyping to identify small deletions in patients diagnosed with DBA and other anemias lacking molecular diagnoses. Diminutive mosaic deletions involving RPS14 were identified in a 5-year-old patient with non-classical DBA and in a 17-year-old patient with myelodysplastic syndrome. Patients with nonclassical DBA and other hypoproliferative anemias may have somatically acquired 5q deletions with RPS14 haploinsufficiency not identified by fluorescence in situ hybridization or cytogenetic testing, thus refining the spectrum of disorders with 5q- deletions.

Original languageEnglish (US)
Pages (from-to)2487-2490
Number of pages4
Issue number14
StatePublished - Oct 3 2013
Externally publishedYes

ASJC Scopus subject areas

  • Biochemistry
  • Immunology
  • Hematology
  • Cell Biology


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