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Updated: Sep 25, 2026
Chromosome Preparation From Cultured Cells
Published on: January 28, 2014
A myeloproliferative disease in two infants associated with eosinophilia and chromosome t(1;5) translocation
P J Darbyshire1, D Shortland, G J Swansbury
1Department of Haematology/Oncology, Hospital for Sick Children, London.
Insights
A rare balanced translocation t(1;5)(q23;q33) was identified in two children with myeloproliferative disorder. This finding suggests a new subclass of this blood disorder, distinct from monosomy 7 syndrome.
Area of Science:
- Hematology
- Genetics
- Pediatric Oncology
Background:
- Myeloproliferative disorders (MPDs) are a group of cancers affecting blood cells.
- Acquired chromosomal abnormalities are often implicated in the development of MPDs.
- The monosomy 7 syndrome is a known MPD associated with specific chromosomal changes.
Observation:
- Two pediatric patients presented with anemia, eosinophilia, and thrombocytopenia.
- Both patients shared a novel, identical balanced translocation: t(1;5)(q23;q33).
- No constitutional abnormalities were detected in either child.
Findings:
- The identified t(1;5)(q23;q33) translocation is a previously unreported finding in medical literature.
- This specific translocation is hypothesized to represent a distinct subclass of MPD.
- The clinical course varied, with one child responding poorly to treatment while the other remained stable.
Implications:
- This discovery expands the understanding of genetic factors contributing to pediatric MPDs.
- The t(1;5)(q23;q33) translocation may serve as a specific diagnostic marker for a novel MPD subclass.
- Further research is warranted to elucidate the pathogenesis and optimal treatment strategies for this condition.
Abstract:
Two children are described who presented at the age of 5 and 7 months with anaemia, a high white cell count with eosinophilia and thrombocytopenia. Both children had an identical balanced translocation t(1;5)(q23;q33) and no evidence of a constitutional abnormality. The response to treatment of one child was poor, the other remains well on therapy. This translocation has not been previously reported and is likely to represent a subclass of myeloproliferative disorder analogous to the monosomy 7 syndrome, although less common. The previous literature of acquired chromosome abnormalities involving chromosomes 1 and 5 is reviewed.
