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Chromosome 5q Deletion Syndrome MeSH Supplementary Concept Data 2024


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
Registry Number
0
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 Preferred
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