"Masked" Ph¹ chromosome in a complex three-way translocation

A patient with myelofibrosis was found to have a 46,XX,del(1)(q24),del(11)(p11),-22,+mar karyotype in unstimulated peripheral blood (PB) and spleen cells. On detailed cytogenetic examination it was determined that this patient had an apparently "masked" Ph¹ chromosome contained in a complex three-way translocation. Since phytohemagglutinin (PHA)-stimulated PB and spleen cells were essentially normal, the masked Ph¹ chromosome was assumed to be an acquired cytogenetic abnormality. The portion missing from the masked Ph¹ chromosome was apparently translocated onto del(1). Thus, the detailed karyotype was 46,XX,t(1;11;22)(q24;p11;q11 or q12),t(1;22)(q24;q11 or q12). This complex rearrangement was present primarily in cells belonging to the granulocyte-macrophage cell lineage, whereas E-rosetting cells, and presumably T lymphocytes, had normal karyotypes.