Chromosome 5q Deletion Syndrome

Description

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).

Clinical Features

Top most frequent phenotypes and symptoms related to Chromosome 5q Deletion Syndrome

  • Neoplasm
  • Anemia
  • Thrombocytopenia
  • Leukemia
  • Neutropenia
  • Bone marrow hypocellularity
  • Myelodysplasia
  • Macrocytic anemia
  • Acute leukemia
  • Increased mean platelet volume

And another 5 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Chromosome 5q Deletion Syndrome Is also known as mar, macrocytic anemia, refractory, due to 5q deletion, 5q- syndrome.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Chromosome 5q Deletion Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
RPS14.

By Fulgent Genetics Fulgent Genetics (United States).

RPS14
Specificity
100 %
Genes
100 %

You can get up to -6 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

ORPHANET MESH OMIM Genetic Syndrome Finder

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