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Updated: Aug 8, 2026

Associated Chromosome Trap for Identifying Long-range DNA Interactions
Published on: April 23, 2011
Transposition of c-abl oncogene in a case of masked Ph chromosome duplicated in blastic phase
E Maserati1, P Cavalli, R Casalone
1Biologia Generale e Genetica Medica, Università di Pavia, Italy.
Abstract:
A female with chronic myelocytic leukemia (CML) in blastic phase (BP) showed a masked Ph chromosome that had originated by a translocation between chromosomes 8 and 22, with no obvious involvement of chromosome 9. A duplication of the masked Ph and trisomy 13 were present as additional anomalies. The karyotype on peripheral blood unstimulated cultures was 48,XX,t(8;22)(p12;q11),+13,+der(22) t(8;22)/47,XX,t(8;22)(p12;q11),+der(22)t(8;22). While the duplication of the Ph is a frequent finding in BP of CML, we did not find any other case in the literature with duplication of a masked Ph. In situ hybridization with c-abl and bcr probes showed that a 3' bcr sequence was translocated to the der(8) chromosome, while the c-abl oncogene was transposed to the masked Ph.
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