Chromosomes in Haematology

Familial Polycythaemia Vera

“…This abnormality together with the E ring chromosome found in Case 1 may be the result of 32P therapy. An extra C chromosome which was present in a minor clone of cells in Case 1, has been described in association with many myeloproliferative disorders including PV and myelofibrosis (Lawler 1969). It is of interest that in this patient the 47, XX, + C cell line is of recent occurrence and is associated with clinical and haematological evidence of myelofibrosis.…”

Isochromosome 17 in a Patient with a Myeloproliferative Disorder Terminating in Eosinophilic Leukemia

“…With the exception of the Philadelphia chromosome, they are generally found only shortly before or during blastic transformation. In rare cases trisomy 8 may also be found in a chronic stage of chronic myelocytic leukemia (18,19,20). These abnormalities may also occur in other myeloproliferative disorders (17).…”

“…For example, trisomy 8 is one of the most common aberrations in acute myeloblastic leukemia and is also found in polycythemia Vera (25). Isochromosome 17 has also been demonstrated in other leukemias and lymphomas (4, 18,25).…”

Acquired Trisomy 12 and Absent Y Chromosome in a Patient with Acute Undifferentiated Leukaemia

“…A missing Y is often seen in the marrows of males over 60 years old, but its occurrence as the sole karyotypic anomaly is relatively rare (Sandberg 1980). The significance of 45,X,-Y cells in non-leukaemic haematopoietic cells in males is not known although a relationship to premature aging of haematopoietic cells has been suggested (Pierre & Hoagland 1972, Lawler 1977.…”