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Translocation (X;8)(q2?6;q21.3) in a case of systemic mastocytosis
Y Zhang1, B Schlegelberger, K Weber-Matthiesen
1Department of Human Genetics, Kiel University, Germany.
Cancer Genetics and Cytogenetics
|December 1, 1994
Abstract:
Mastocytosis is a rare disease which occasionally progresses into mast cell leukemia or other myeloid neoplasms. Here we report on a patient with systemic mastocytosis who was found to have a clone with t(X;8)(q2?6;q21.3) and two copies of der(8)t(X;8). In accordance with these results, interphase cytogenetic analysis revealed that 93% of bone marrow cells contained three centromeric regions of chromosome 8. We suggest that the t(X;8) and the duplication of the translocation chromosome 8 may play a role in the progression of the diseases.