Isochromosome 22q- was identified by in situ hybridization of abl gene in a case of CML in blastic crisis. A 19-year-old male had been treated with busulfan for Ph
1 positive CML. Two years later, he developed blastic crisis with a type of tumor formation and died in the full developed leukemic conditions. At the stage of blastic crisis, almost all Ph
1 chromosomes seemed to be disappeared and many small metacentiric chromosomes were found, instead of Ph
1 chromosomes. In situ hybridization of the metaphase chromosomes by
3H-labelled v-abl (2.3 kb) resulted in highly significant labelling on these small metacentric chromosomes and band 9q34. Therefore, the small metacentric chromosomes were identified to be isochromosome of translocated #22 chromosome; i (22q-), originated from Ph
1 chromosome.
By in situ hybridization of abl gene, the karyotype in blastic crisis was determined: 52, XY, +X, +Y, -4, +5, -9, +17, -18, -19, -22, +mar1, +mar2, del(7)(p11), +der(9) t(9;22)(q34;q11), +i(22q), +i(22q-), +der(19) t(1;19)(q11;q13), +der(19) t(1;19)(q11;q13). Thus, in situ hybridization of genes, those chromosomal localization have been mapped, seems one of the useful tool for the analysis of complicated chromosome abnormalities.
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