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Dadun > Depósito Académico > CIMA (Centro de Investigación Médica Aplicada) > Área de Oncología > Genética > DA - CIMA - Oncología - Genética - Artículos de revista >

Insertion (22;9)(q11;q34q21) in a patient with chronic myeloid leukemia characterized by fluorescence in situ hybridization
Authors: Martin-Subero, J.I. (Jose Ignacio)
Lahortiga, I. (Idoya)
Gomez, E. (Emilio)
Ferreira, C. (C.)
Larrayoz, M.J. (María J.)
Odero, M.D. (Maria Dolores)
García-Delgado, M. (Marina)
Novo, F.J. (Francisco Javier)
Giraldo, P. (P.)
Calasanz-Abinzano, M.J. (Maria Jose)
Keywords: Chromosome Inversion
Chromosomes, Human, Pair 22/ultrastructure
Chromosomes, Human, Pair 9/ultrastructure
Fusion Proteins, bcr-abl/genetics
Leukemia, Myelogenous, Chronic, BCR-ABL Positive/genetics
Translocation, Genetic
Tumor Markers, Biological/genetics
Issue Date: 2001
Publisher: Elsevier
Publisher version:
ISSN: 1873-4456
Citation: Martin-Subero JI, Lahortiga I, Gomez E, Ferreira C, Larrayoz MJ, Odero MD, et al. Insertion (22;9)(q11;q34q21) in a patient with chronic myeloid leukemia characterized by fluorescence in situ hybridization. Cancer Genet Cytogenet 2001 Mar;125(2):167-170.
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.
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DA - Ciencias - Genética - Artículos de revista

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