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GTR Home > Conditions/Phenotypes > Myelodysplastic syndrome associated with isolated del(5q)

Myelodysplastic syndrome associated with isolated del(5q)

Synonyms
5q deletion syndrome; 5q- syndrome; Chromosome 5q deletion syndrome; Refractory macrocytic anemia due to 5q deletion
Modes of inheritance
Not genetically inherited (Orphanet)

Summary

The 5q- syndrome is a myelodysplastic syndrome characterized by a defect in erythroid differentiation. Patients have severe macrocytic anemia, normal or elevated platelet counts, normal or reduced neutrophil counts, erythroid hypoplasia in the bone marrow, and hypolobated micromegakaryocytes (Ebert et al., 2008). [from OMIM]

Available tests

14 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (14 available)

Cytogenetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: EMTB, S14, uS11, RPS14
    Summary: ribosomal protein S14

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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