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dc.contributor.author
Belli, C.
dc.contributor.author
Alú, M.F.
dc.contributor.author
Alfonso, G.
dc.contributor.author
Bianchini, Michele
dc.contributor.author
Larripa, I.
dc.date.available
2023-03-28T12:05:58Z
dc.date.issued
2011-01
dc.identifier.citation
Belli, C.; Alú, M.F.; Alfonso, G.; Bianchini, Michele; Larripa, I.; Novel variant Ph translocation t(9;22;11)(q34;q11.2;p15)inv(9)(p13q34) in chronic myeloid leukemia involving a one-step mechanism; Karger; Cytogenetic And Genome Research; 132; 4; 1-2011; 304-308
dc.identifier.issn
1424-8581
dc.identifier.uri
http://hdl.handle.net/11336/191779
dc.description.abstract
Chronic myeloid leukemia (CML) is a clonal malignant disorder of a pluripotent hematopoietic stem cell characterized by the presence of a Philadelphia (Ph) chromosome. Less than 10% of patients present variant Ph chromosomes involving 1 or more additional chromosomes, other than chromosomes 9 and 22, with uncertain prognosis. There are mainly 1- or 2-step mechanisms proposed to explain the genesis of variant Ph chromosomes depending on whether the involved chromosomes are simultaneously broken and rejoined or if a standard t(9;22) occurs first. By combined standard cytogenetic and FISH analysis we detected a novel variant Ph translocation among chromosomes 9, 11 and 22 in a patient with CML without progression to an accelerated phase of the disease after 7 years, with the derivative chromosome 9 also having an acquired pericentric inversion. This novel case illustrates the use of FISH in metaphase to confirm a new rearrangement not previously described in variant Ph formation and that the present karyotype could have originated by a 1-step mechanism with 4 simultaneous breakages without deletion of ABL1.
dc.format
application/pdf
dc.language.iso
eng
dc.publisher
Karger
dc.rights
info:eu-repo/semantics/openAccess
dc.rights.uri
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.subject
CHRONIC MYELOID LEUKEMIA
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FISH
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MECHANISM
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VARIANT PHILADELPHIA CHROMOSOME
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Genética Humana
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Medicina Básica
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CIENCIAS MÉDICAS Y DE LA SALUD
dc.title
Novel variant Ph translocation t(9;22;11)(q34;q11.2;p15)inv(9)(p13q34) in chronic myeloid leukemia involving a one-step mechanism
dc.type
info:eu-repo/semantics/article
dc.type
info:ar-repo/semantics/artículo
dc.type
info:eu-repo/semantics/publishedVersion
dc.date.updated
2023-03-23T12:18:20Z
dc.journal.volume
132
dc.journal.number
4
dc.journal.pagination
304-308
dc.journal.pais
Suiza
dc.journal.ciudad
Basel
dc.description.fil
Fil: Belli, C.. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina
dc.description.fil
Fil: Alú, M.F.. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina
dc.description.fil
Fil: Alfonso, G.. Sanatorio Nuestra Señora del Pilar; Argentina
dc.description.fil
Fil: Bianchini, Michele. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
dc.description.fil
Fil: Larripa, I.. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina
dc.journal.title
Cytogenetic And Genome Research
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/https://www.karger.com/article/FullText/322824
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/http://dx.doi.org/10.1159/000322824
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