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Leuk Res. 2010 Dec;34(12):1627-9. doi: 10.1016/j.leukres.2010.05.014. Epub 2010 Jun 9.

Constitutional inv(3) in myelodysplastic syndromes.

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Department of Medicine, Karolinska Institutet Huddinge, Stockholm, Sweden.


The constitutional pericentric inversion on chromosome 3, inv(3), is rarely found in a normal population. The aim of our study was to investigate its possible link to hematologic malignancy. Chromosomes from bone marrow cells in 890 patients with hematologic disorders were analyzed with the Q-banding technique. Thirty-four patients had inv(3) (3.8%). In 241 patients with myelodysplastic syndromes the frequency was 6.2% as opposed to 2.9% in the remaining 649 patients (p=0.02). The increased frequency of inv(3) in patients with myelodysplastic syndromes indicates that inv(3) could be a risk factor for the development of the disease.

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