title: Translocation (X;8)(q2?6;q21.3) in a case of systemic mastocytosis.
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.
authors: Department of Human Genetics, Kiel University, Germany.
authors: Y
authors: Y
authors: Zhang
authors: B
authors: B
authors: Schlegelberger
authors: K
authors: K
authors: Weber-Matthiesen
authors: W
authors: W
authors: Grote
authors: H
authors: H
authors: Bartels
mesh_terms: D000368:Aged; D002898:Chromosomes, Human, Pair 8; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D008415:Mastocytosis / Q000235:genetics*; D014178:Translocation, Genetic; D014960:X Chromosome