PMID- 11369063 OWN - NLM STAT- MEDLINE DCOM- 20010906 LR - 20190816 IS - 0165-4608 (Print) IS - 0165-4608 (Linking) VI - 125 IP - 2 DP - 2001 Mar TI - Insertion (22;9)(q11;q34q21) in a patient with chronic myeloid leukemia characterized by fluorescence in situ hybridization. PG - 167-70 AB - An unusual cytogenetic rearrangement, described as ins(22;9)(q11;q34q21), was detected in a 49-year-old male patient diagnosed with chronic myeloid leukemia (CML). Reverse transcriptase polymerase chain reaction (RT-PCR) revealed a b3a2 fusion transcript. In order to confirm the cytogenetic findings and fully characterize the inverted insertion, we performed fluorescence in situ hybridization (FISH) assays using locus-specific and whole chromosome painting probes. Our FISH analysis showed the presence of the BCR/ABL fusion gene, verified the insertion and determined that the breakpoint on chromosome 22 where the insertion took place was located proximal to the BCR gene and distal to the TUPLE1 gene on 22q11. FAU - Martin-Subero, J I AU - Martin-Subero JI AD - Department of Genetics, University of Navarra, Irunlarrea s/n, 31008, Pamplona, Spain. FAU - Lahortiga, I AU - Lahortiga I FAU - Gomez, E AU - Gomez E FAU - Ferreira, C AU - Ferreira C FAU - Larrayoz, M J AU - Larrayoz MJ FAU - Odero, M D AU - Odero MD FAU - Garcia-Delgado, M AU - Garcia-Delgado M FAU - Novo, F J AU - Novo FJ FAU - Giraldo, P AU - Giraldo P FAU - Calasanz, M J AU - Calasanz MJ LA - eng PT - Case Reports PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - United States TA - Cancer Genet Cytogenet JT - Cancer genetics and cytogenetics JID - 7909240 RN - 0 (Biomarkers, Tumor) RN - EC 2.7.10.2 (Fusion Proteins, bcr-abl) SB - IM MH - Biomarkers, Tumor/analysis/*genetics MH - Bone Marrow/pathology MH - Chromosome Banding MH - Chromosome Breakage MH - *Chromosome Inversion MH - Chromosome Painting MH - Chromosomes, Human, Pair 22/genetics/*ultrastructure MH - Chromosomes, Human, Pair 9/genetics/*ultrastructure MH - Clone Cells/pathology MH - Fusion Proteins, bcr-abl/analysis/*genetics MH - Humans MH - Karyotyping MH - Leukemia, Myelogenous, Chronic, BCR-ABL Positive/*genetics/metabolism/pathology MH - Male MH - Middle Aged MH - Models, Genetic MH - Mutagenesis, Insertional MH - Reverse Transcriptase Polymerase Chain Reaction MH - *Translocation, Genetic EDAT- 2001/05/23 10:00 MHDA- 2001/09/08 10:01 CRDT- 2001/05/23 10:00 PHST- 2001/05/23 10:00 [pubmed] PHST- 2001/09/08 10:01 [medline] PHST- 2001/05/23 10:00 [entrez] AID - S0165-4608(00)00370-8 [pii] AID - 10.1016/s0165-4608(00)00370-8 [doi] PST - ppublish SO - Cancer Genet Cytogenet. 2001 Mar;125(2):167-70. doi: 10.1016/s0165-4608(00)00370-8.