MeSH Browser

MeSH Supplementary: Chromosome 5q Deletion Syndrome
Unique ID: C535323
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C535323
Entry Term(s): 5q deletion syndrome; 5q- syndrome; Macrocytic Anemia, Refractory, Due To 5q Deletion; Refractory macrocytic anemia due to 5q deletion
Heading Mapped to: *Anemia, Macrocytic; *Chromosome Deletion; Chromosomes, Human, Pair 5
Frequency: 85
Note: A MYELODYSPLASTIC SYNDROME that arises from a defect in erythroid differentiation. Patients present with severe macrocytic anemia, normal or elevated PLATELET counts, normal or reduced NEUTROPHIL counts, erythroid hypoplasia in the BONE MARROW, and hypolobated micromegakaryocytes. A somatic deletion of the RPS14 gene has been identified. OMIM: 153550
Date of Entry: 2010/06/25
Revision Date: 2015/08/18

Chromosome 5q Deletion Syndrome MeSH Supplementary Concept Data 2024