Isolated deletion of the long arm of chromosome 20 del(20q12) in myelodysplastic syndrome: a case report and literature review
Singapore medical journal
;
: e185-9, 2013.
Article
in English
| WPRIM
| ID: wpr-337881
ABSTRACT
Isolated deletion of the long arm of chromosome 20 [del(20q12)] is a rare abnormality in patients with de novo myelodysplastic syndrome. It is characterised by refractory thrombocytopenia, minimal haematological dysplasia and a lower risk for progression to acute myeloid leukaemia. Its distinction from chronic autoimmune thrombocytopenia, although clinically and morphologically difficult, is critical. We report a case of refractory cytopenia and unilineage dysplasia in an elderly woman with isolated del(20q12), identified via fluorescence in situ hybridisation analysis of her bone marrow. In order to avoid a misdiagnosis, we suggest that cytogenetic analysis be performed on all patients suspected to have myelodysplastic syndrome with predominant thrombocytopenic presentation.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pathology
/
Biopsy, Needle
/
Myelodysplastic Syndromes
/
Chromosomes, Human, Pair 20
/
Bone Marrow Cells
/
Chromosome Deletion
/
In Situ Hybridization, Fluorescence
/
Diagnosis
/
Flow Cytometry
/
Genetics
Type of study:
Diagnostic study
/
Prognostic study
Limits:
Aged
/
Female
/
Humans
Language:
English
Journal:
Singapore medical journal
Year:
2013
Type:
Article
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