Cytogenetic studies in 56 cases with Ph1-positive hematologic disorders.

Karyotypes were examined in 56 cases of Ph1-positive hematologic disorders based on direct examination of bone marrow material and culture of blood for 24 hr without phytohemagglutinin (PHA). Various banding techniques (Q, followed by R or C, where necessary) were used. The series of patients consisted of 21 females and 35 males with the ages ranging from 3 to 72 years. In three cases, the clinical and hematologic picture at the time of diagnosis and karyotyping was not compatible with chronic myeloid leukemia (CML): 1 case had acute myeloblastic leukemia (AML), another acute lymphoblastic leukemia (ALL) and the third subacute myeloid leucosis. The results are as follows: In three cases (two female, one male), no Ph1 translocation could be demonstrated in any of the metaphases either with Q- or R-banding. In 50 cases (19 female, 31 male), a standard Ph1 translocation, t(9;22)(q34;q11), was observed. In two of these cases, ages 45 and 47, the Ph1 translocation was accompanied by loss of the Y chromosome in all the metaphases examined. Finally, in three cases (all male), variant Ph1-translocations were found: t(7;9)(9;22)(q35?;q31?;q11), and t(1;9)(9;22)(q21;134;q11).