Constitutional heteromorphism of 9q13 --> q21 in a patient with chronic myelogenous leukemia

Cytogenetic studies were carried out in a 44-year-old white male because of newly diagnosed chronic myelogenous leukemia. His initial bone marrow study revealed 46,XY, var(9)(q13 -->q21)/46,XY,var(9) (q13-->q21), t(9;22)(q34;q11) karyotypes and later he also acquired a 47,XY,+8,var(9)(q13-->q21), t(9;22)(q34;q11) clone. The var(9)(q13-->q21) heteromorphism was observed in the normal 9 homolog, in 200 GTG-banded bone marrow metaphases in seven cytogenetic studies (1988-90). This heteromorphism was observed in the normal cell line, in the two chronic myelogenous leukemia-related clones, as well as in 100 mitogen-induced peripheral blood lymphocytes, indicating its constitutional nature. This seems to be the first report of var(9)(q13 --> q21) heteromorphism, involving GTG-positive euchromatic band, in a chronic myelogenous leukemia proband.