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myelodysplastic syndrome associated with isolated del(5q)

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Disease Overview

A myelodysplastic syndrome characterized by a deletion between bands q31 and 33 on chromosome 5. The number of blasts in the bone marrow and blood is <5%. The bone marrow is usually hypercellular or normocellular with increased number of often hypolobated megakaryocytes. The peripheral blood shows macrocytic anemia. This syndrome occurs predominantly but not exclusively in middle age to older women. The prognosis is good and transformation to acute leukemia is rare. (WHO, 2001)

Synonyms

  • 5Q minus syndrome
  • 5Q- syndrome
  • 5q deletion syndrome
  • 5q syndrome
  • 5q- syndrome
  • 5q- syndrome, refractory macrocytic anaemia due to 5q deletion
  • 5q- syndrome, refractory macrocytic anemia due to 5q deletion
  • MAR
  • chromosome 5q deletion syndrome
  • macrocytic Anemia, refractory, due to 5Q deletion
  • macrocytic anemia, refractory, due to 5q deletion, somatic
  • megakaryocytes, unilobular nucleated
  • myelodysplastic syndrome associated with isolated del (5q) chromosome Abnormality
  • myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
  • myelodysplastic syndrome with 5q deletion
  • myelodysplastic syndrome with isolated del(5q)
  • refractory macrocytic anaemia due to 5q deletion
  • refractory macrocytic anemia due to 5q deletion
GARD Disease Summary

The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).

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Orphanet

Orphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources. Some of the information and resources are available in languages other than English. The summary may include medical terms, so we encourage you to share and discuss this information with your doctor. Orphanet is the French National Institute for Health and Medical Research and the Health Programme of the European Union.

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OMIM

Online Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.

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