Ph-positive CML in a family with a constitutional Robertsonian translocation 14;15.
A patient with CML in chronic phase was admitted to our center for bone marrow transplantation. Cytogenetic analysis of bone marrow cells revealed a Ph chromosome due to a standard t(9;22) and a Robertsonian t(14;15). This Robertsonian translocation was also found in PHA-stimulated lymphocytes of the patient's sister, the donor of the bone marrow. A chromosome study of the whole family proved the constitutional character of the t(14;15) abnormality and showed that it was inherited from the father's side. All family members were phenotypically normal with normal mental status. Female carriers of the t(14;15), as well as wives of male carriers, had a high incidence of miscarriages and early death of their offspring. The occurrence of Ph-positive CML in a patient with a Robertsonian t(14;15) might indicate increased risk for the development of leukemia in patients with this constitutional chromosome abnormality. This assumption however, is limited by the rarity of the Robertsonian translocations.
D000328:Adult; D016026:Bone Marrow Transplantation; D002871:Chromosome Banding; D002901:Chromosomes, Human, 13-15; D005260:Female; D006579:Heterozygote; D006801:Humans; D007621:Karyotyping; D007951:Leukemia, Myeloid / Q000235:genetics* / Q000628:therapy; D008297:Male; D010375:Pedigree; D010677:Philadelphia Chromosome; D012306:Risk; D014178:Translocation, Genetic