Chromosome 5q deletion syndrome

Chromosome 5q deletion syndrome
Photomicrograph of bone marrow showing abnormal mononuclear megakaryocytes typical of 5q- syndrome
Classification and external resources
Specialty	hematology
ICD-O	M9986/3
OMIM	153550
DiseasesDB	34573
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Chromosome 5q deletion syndrome (chromosome 5q monosomy, 5q- syndrome) is an acquired, hematological disorder characterized by loss of part of the long arm (q arm, band 5q33.1) of human chromosome 5 in bone marrow myelocyte cells. This chromosome abnormality is most commonly associated with the myelodysplastic syndrome.

It should not be confused with "partial trisomy 5q", though both conditions have been observed in the same family.

This should not be confused with the germ line cri du chat (5p deletion) syndrome which is a deletion of the short arm of the 5th chromosome.

The 5q-syndrome is characterized by macrocytic anemia, often a moderate thrombocytosis, erythroblastopenia, megakaryocyte hyperplasia with nuclear hypolobation, and an isolated interstitial deletion of chromosome 5. The 5q- syndrome is found predominantly in females of advanced age.

Several genes in the deleted region appear to play a role in the pathogenesis of 5q-syndrome.Haploinsufficiency of RPS14 plays a central role, and contributes to the anemia via both p53-dependent and p53-independent tumor suppressor effects. Other genes at this region include miR-145 and miR-146a, whose deletion is associated with the megakaryocytic dysplasia and thrombocytosis seen in 5q- syndrome;SPARC, which has antiproliferative and antiangiogenic effects; and the candidate tumor suppressors EGR1, CTNNA1, and CDC25C.

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