Chromosome 5q deletion syndrome
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| Chromosome 5q deletion syndrome Classification and external resources |
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| Photomicrograph of bone marrow showing abnormal mononuclear megakaryocytes typical of 5q- syndrome | |
| OMIM | 153550 |
| DiseasesDB | 34573 |
Chromosome 5q deletion syndrome (chromosome 5q monosomy, 5q- syndrome) is a rare disorder caused by loss of part of the long arm (q arm, band 5q31.1) of human chromosome 5.
It should not be confused with "partial trisomy 5q", though both conditions have been observed in the same family.[1]
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[edit] Causes
An association with RPS14 has been identified.[2]
[edit] Histology
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 hyperplasia.[3]
[edit] Treatment
Lenalidomide is a new agent that is showing promise in treating 5q- syndrome.
[edit] Presentation
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.
[edit] Prognosis
Most patients have a stable clinical course but are often transfusion dependent.
[edit] References
- ^ 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. PMID 4042393.
- ^ Ebert BL, Pretz J, Bosco J, et al (January 2008). "Identification of RPS14 as a 5q- syndrome gene by RNA interference screen". Nature 451 (7176): 335–9. doi:. PMID 18202658.
- ^ Bunn HF (1986). "5q- and disordered haematopoiesis". Clinics in haematology 15 (4): 1023–35. PMID 3552346.
[edit] External links
- 5q- syndrome at NIH's Office of Rare Diseases
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