Chromosome 5q deletion syndrome
|Chromosome 5q deletion syndrome|
Photomicrograph of bone marrow showing abnormal mononuclear megakaryocytes typical of 5q- syndrome
|Classification and external resources|
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 5q31.1) of human chromosome 5 in bone marrow myelocyte cells. This chromosome abnormality is most commonly associated with the myelodysplastic syndrome.
This should not be confused with 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 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.
This syndrome affects bone marrow cells causing treatment-resistant anemia and myelodysplastic syndromes that may lead to acute myelogenous leukemia. Examination of the bone marrow shows characteristic changes in the megakaryocytes. They are more numerous than usual, small and mononuclear. There may be accompanying erythroid hypoplasia in the bone marrow.
Most patients have a stable clinical course but are often transfusion dependent.
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- Online 'Mendelian Inheritance in Man' (OMIM) 5q- syndrome -153550
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