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The 45, XO, Ph 1 Subgroup of Chronic Granulocytic Leukaemia
Author(s) -
GARSON O. MARGARET,
MILLIGAN WENDY J.
Publication year - 1972
Publication title -
scandinavian journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 84
eISSN - 1600-0609
pISSN - 0036-553X
DOI - 10.1111/j.1600-0609.1972.tb00929.x
Subject(s) - chromosome , bone marrow , karyotype , pathology , chronic granulocytic leukemia , staining , lymphocyte , philadelphia chromosome , biology , cytogenetics , microbiology and biotechnology , leukemia , medicine , immunology , genetics , chromosomal translocation , gene
Three male patients with chronic granulocytic leukaemia were found by direct bone marrow chromosome studies to belong to a cytogenetically defined variant of this disorder. In addition to possessing the Philadelphia chromosome, the leukaemic cells lacked a member of group G, thought to be the Y chromosome. This suggestion was confirmed by fluorescent staining of the chromosomes using quinacrine mustard, thus giving a chromosome constitution of 45, XO, Ph 1 in the bone marrow cells. Using lymphocyte mitoses, the genotype of two of the patients was established as 46, XY. The fluorescent technique also enabled the identification of the Philadelphia chromosome as a member of the pair 22, in all three patients. The clinical and haematological features of the subgroup as illustrated by these patients are described and indicate that there is little to differentiate these patients from those with 46 Ph 1 chronic granulocytic leukaemia except perhaps a more protracted course of the disease. Therefore diagnosis can only be established by cytogenetic examination of bone marrow or leukaemic cells at presentation.