The bone marrow aspiration specimen was hypocellular; for this reason, the cultures yielded only nine analyzable metaphase cells. Complete cytogenetic analysis was performed completely on these nine trypsin-Giemsa banded metaphase cells from 24 hour harvests of unstimulated bone marrow aspirate cell cultures. Eight cells had an apparently normal female chromosome complement. One cell had a 45,XX,-3,t(9;22)(q34;q11.2), -20 chromosome pattern. Four other cells were examined for the presence of the t(9;22)(q34;q11.2) rearrangement. Each of these cells had what appeared to be normal chromosomes 9 and 22.
Thus, no consistent chromosome abnormalities were initially observed. However, one of the cells had an abnormal chromosome pattern. Examination of the karyotype of this cell revealed the Philadelphia translocation [t(9;22)(q34;q11.2)]. The karyotype was designated as follows:
MOLECULAR CYTOGENETIC ANALYSIS