Photomicrograph of bone marrow showing abnormal mononuclear megakaryocytes typical of 5q- syndrome
Specialty
Hematology
Chromosome 5q deletion 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.[1]
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.[citation needed] Diagnosis is achieved through marrow biopsy.
^Lazjuk GI; Lurie IW; Kirillova IA; et al. (August 1985). "Partial trisomy 5q and partial monosomy 5q within the same family". Clin. Genet. 28 (2): 122–9. doi:10.1111/j.1399-0004.1985.tb00371.x. PMID 4042393. S2CID 33815922.
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