[Cleidocranial dysostosis: presentation of 3 cases].
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Biomedical subjects
R Bruzzone
Publications and source records attributed to R Bruzzone.
Clonality study by fluorescence in situ hybridization of a patient with refractory anemia with ringed sideroblasts and monosomy 7.
Myelodysplastic syndromes (MDS) are stem cell diseases but it is still controversial whether chromosomal abnormalities occurring in these disorders affect a multipotent stem cell or a committed progenitor. We studied a case of refractory anemia with ringed sideroblasts (RARS) and monosomy 7 in 100% of examined metaphases. Using the fluorescence in situ hybridization (FISH) technique with a probe specific for the centromeric region of chromosome 7, we demonstrated that 15% of BM cells fixed in acetic acid/methanol exhibited a normal diploid karyotype. Applying the FISH technique on PB cells smeared onto a slide, we observed that lymphocytes maintain two chromosomes 7, whereas other leukocytes exhibited monosomy 7. Our study confirms that chromosomal abnormalities found in MDS can occur in cells capable of differentiation along granulocytic and monocytic lineages, but not along the lymphocytic lineage.
Anemia, Sideroblastic↗
Duplication of the der(13)t(12;13)(p13;q14) in chronic myelomonocytic leukemia.
A case of chronic myelomonocytic leukemia with a reciprocal translocation (12;13)(p13;q14) and other numerical and structural abnormalities is described. Most of the metaphases examined showed duplication of the der(13)t(12;13), leading to trisomy of the translocated segment of chromosome 12. Using fluorescence in situ hybridization we observed that the breakpoint on chromosome 13 is centromeric to the retinoblastoma gene. Since other cases with apparently similar t(12;13) have recently been reported, we conclude that this structural rearrangement may be a rare but non random event in hematologic disorders.
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