Acute leukemia associated with trisomy 8 mosaicism and a familial translocation 46,XY,t(7;20)(p13;p12).
A patient is shown to have acute granulocytic leukemia, bone marrow mosaicism, and cutaneous fibroblast mosaicism for trisomy 8, an inherited reciprocal translocation involving the short arms of chromosomes 7 and 20, and a family history of cancer. A normal sister who had the same balanced chromosome translocation was evaluated for a preleukemic state; the results were unremarkable. The inherited translocation and postzygotically derived trisomy 8 are thought to represent additive factors contributing to the development of leukemia in the patient.
D000328:Adult; D000368:Aged; D001853:Bone Marrow / Q000032:analysis; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D002903:Chromosomes, Human, 19-20; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D005347:Fibroblasts / Q000032:analysis; D006801:Humans; D007223:Infant; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009030:Mosaicism; D009369:Neoplasms / Q000235:genetics*; D010375:Pedigree; D014178:Translocation, Genetic; D014314:Trisomy