Evaluation of constitutional chromosome aberrations in hematologic disorders
- Autores
- Cerretini, Roxana; Acevedo, Susana Haydee; Chena, Christian; Belli, Carolina Bárbara; Larripa, Irene Beatriz; Slavutsky, Irma Rosa
- Año de publicación
- 2002
- Idioma
- inglés
- Tipo de recurso
- artículo
- Estado
- versión publicada
- Descripción
- We have reviewed 4164 patients with various hematologic disorders cytogenetically studied in our laboratory during the last 25 years to analyze the frequency of constitutional chromosome aberrations (CCA) and to evaluate their association with hematologic malignancies. Our population of patients included 1133 pediatric patients and 3031 adults. Twenty-four (0.58%) cases showed CCA. They included four patients with Robertsonian translocations, one patient with a balanced translocation, two patients with sex chromosome abnormalities, and 17 cases with Down syndrome (DS). Nonsignificant differences among the frequency of patients with CCA from our hematologic series and those observed in the two largest combined surveys of livebirth published (0.65-0.84%) were found. The incidence of DS patients in our population (0.41%) was approximately three times higher than of that observed at birth (0.12-0.17%; P<0.001). The total incidence of constitutional chromosome abnormalities in the non-DS hematologic patients was 0.168% (7 of 4164) lower than of that observed in the newborn population (0.51-0.67%; P<0.001). Nonsignificant differences were found when the incidences of structural aberrations and sex chromosome anomalies were individually compared with the data of the overall population. Our results suggest that the presence of a CCA, other than DS, would not predispose patients to hematologic malignancies. © 2002 Elsevier Science Inc. All rights reserved.
Fil: Cerretini, Roxana. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina. Dirección Nacional de Instituto de Investigación. Administración Nacional de Laboratorios e Institutos de Salud "Dr. Carlos G. Malbrán". Centro Nacional de Genética Médica; Argentina
Fil: Acevedo, Susana Haydee. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina
Fil: Chena, Christian. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina
Fil: Belli, Carolina Bárbara. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina
Fil: Larripa, Irene Beatriz. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina
Fil: Slavutsky, Irma Rosa. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina - Materia
-
Chromosome Aberrations
Constitutional Alterations
Hematologic Disorders
Cytogenetics - Nivel de accesibilidad
- acceso abierto
- Condiciones de uso
- https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
- Repositorio
- Institución
- Consejo Nacional de Investigaciones Científicas y Técnicas
- OAI Identificador
- oai:ri.conicet.gov.ar:11336/54827
Ver los metadatos del registro completo
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Evaluation of constitutional chromosome aberrations in hematologic disordersCerretini, RoxanaAcevedo, Susana HaydeeChena, ChristianBelli, Carolina BárbaraLarripa, Irene BeatrizSlavutsky, Irma RosaChromosome AberrationsConstitutional AlterationsHematologic DisordersCytogeneticshttps://purl.org/becyt/ford/3.1https://purl.org/becyt/ford/3We have reviewed 4164 patients with various hematologic disorders cytogenetically studied in our laboratory during the last 25 years to analyze the frequency of constitutional chromosome aberrations (CCA) and to evaluate their association with hematologic malignancies. Our population of patients included 1133 pediatric patients and 3031 adults. Twenty-four (0.58%) cases showed CCA. They included four patients with Robertsonian translocations, one patient with a balanced translocation, two patients with sex chromosome abnormalities, and 17 cases with Down syndrome (DS). Nonsignificant differences among the frequency of patients with CCA from our hematologic series and those observed in the two largest combined surveys of livebirth published (0.65-0.84%) were found. The incidence of DS patients in our population (0.41%) was approximately three times higher than of that observed at birth (0.12-0.17%; P<0.001). The total incidence of constitutional chromosome abnormalities in the non-DS hematologic patients was 0.168% (7 of 4164) lower than of that observed in the newborn population (0.51-0.67%; P<0.001). Nonsignificant differences were found when the incidences of structural aberrations and sex chromosome anomalies were individually compared with the data of the overall population. Our results suggest that the presence of a CCA, other than DS, would not predispose patients to hematologic malignancies. © 2002 Elsevier Science Inc. All rights reserved.Fil: Cerretini, Roxana. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina. Dirección Nacional de Instituto de Investigación. Administración Nacional de Laboratorios e Institutos de Salud "Dr. Carlos G. Malbrán". Centro Nacional de Genética Médica; ArgentinaFil: Acevedo, Susana Haydee. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; ArgentinaFil: Chena, Christian. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; ArgentinaFil: Belli, Carolina Bárbara. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; ArgentinaFil: Larripa, Irene Beatriz. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; ArgentinaFil: Slavutsky, Irma Rosa. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; ArgentinaElsevier Science Inc2002-04info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/54827Cerretini, Roxana; Acevedo, Susana Haydee; Chena, Christian; Belli, Carolina Bárbara; Larripa, Irene Beatriz; et al.; Evaluation of constitutional chromosome aberrations in hematologic disorders; Elsevier Science Inc; Cancer Genetics And Cytogenetics; 134; 2; 4-2002; 133-1370165-4608CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/doi/10.1016/S0165-4608(01)00621-5info:eu-repo/semantics/altIdentifier/url/https://www.sciencedirect.com/science/article/pii/S0165460801006215info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-03T10:11:01Zoai:ri.conicet.gov.ar:11336/54827instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982025-09-03 10:11:01.709CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse |
dc.title.none.fl_str_mv |
Evaluation of constitutional chromosome aberrations in hematologic disorders |
title |
Evaluation of constitutional chromosome aberrations in hematologic disorders |
spellingShingle |
Evaluation of constitutional chromosome aberrations in hematologic disorders Cerretini, Roxana Chromosome Aberrations Constitutional Alterations Hematologic Disorders Cytogenetics |
title_short |
Evaluation of constitutional chromosome aberrations in hematologic disorders |
title_full |
Evaluation of constitutional chromosome aberrations in hematologic disorders |
title_fullStr |
Evaluation of constitutional chromosome aberrations in hematologic disorders |
title_full_unstemmed |
Evaluation of constitutional chromosome aberrations in hematologic disorders |
title_sort |
Evaluation of constitutional chromosome aberrations in hematologic disorders |
dc.creator.none.fl_str_mv |
Cerretini, Roxana Acevedo, Susana Haydee Chena, Christian Belli, Carolina Bárbara Larripa, Irene Beatriz Slavutsky, Irma Rosa |
author |
Cerretini, Roxana |
author_facet |
Cerretini, Roxana Acevedo, Susana Haydee Chena, Christian Belli, Carolina Bárbara Larripa, Irene Beatriz Slavutsky, Irma Rosa |
author_role |
author |
author2 |
Acevedo, Susana Haydee Chena, Christian Belli, Carolina Bárbara Larripa, Irene Beatriz Slavutsky, Irma Rosa |
author2_role |
author author author author author |
dc.subject.none.fl_str_mv |
Chromosome Aberrations Constitutional Alterations Hematologic Disorders Cytogenetics |
topic |
Chromosome Aberrations Constitutional Alterations Hematologic Disorders Cytogenetics |
purl_subject.fl_str_mv |
https://purl.org/becyt/ford/3.1 https://purl.org/becyt/ford/3 |
dc.description.none.fl_txt_mv |
We have reviewed 4164 patients with various hematologic disorders cytogenetically studied in our laboratory during the last 25 years to analyze the frequency of constitutional chromosome aberrations (CCA) and to evaluate their association with hematologic malignancies. Our population of patients included 1133 pediatric patients and 3031 adults. Twenty-four (0.58%) cases showed CCA. They included four patients with Robertsonian translocations, one patient with a balanced translocation, two patients with sex chromosome abnormalities, and 17 cases with Down syndrome (DS). Nonsignificant differences among the frequency of patients with CCA from our hematologic series and those observed in the two largest combined surveys of livebirth published (0.65-0.84%) were found. The incidence of DS patients in our population (0.41%) was approximately three times higher than of that observed at birth (0.12-0.17%; P<0.001). The total incidence of constitutional chromosome abnormalities in the non-DS hematologic patients was 0.168% (7 of 4164) lower than of that observed in the newborn population (0.51-0.67%; P<0.001). Nonsignificant differences were found when the incidences of structural aberrations and sex chromosome anomalies were individually compared with the data of the overall population. Our results suggest that the presence of a CCA, other than DS, would not predispose patients to hematologic malignancies. © 2002 Elsevier Science Inc. All rights reserved. Fil: Cerretini, Roxana. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina. Dirección Nacional de Instituto de Investigación. Administración Nacional de Laboratorios e Institutos de Salud "Dr. Carlos G. Malbrán". Centro Nacional de Genética Médica; Argentina Fil: Acevedo, Susana Haydee. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina Fil: Chena, Christian. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina Fil: Belli, Carolina Bárbara. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina Fil: Larripa, Irene Beatriz. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina Fil: Slavutsky, Irma Rosa. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina |
description |
We have reviewed 4164 patients with various hematologic disorders cytogenetically studied in our laboratory during the last 25 years to analyze the frequency of constitutional chromosome aberrations (CCA) and to evaluate their association with hematologic malignancies. Our population of patients included 1133 pediatric patients and 3031 adults. Twenty-four (0.58%) cases showed CCA. They included four patients with Robertsonian translocations, one patient with a balanced translocation, two patients with sex chromosome abnormalities, and 17 cases with Down syndrome (DS). Nonsignificant differences among the frequency of patients with CCA from our hematologic series and those observed in the two largest combined surveys of livebirth published (0.65-0.84%) were found. The incidence of DS patients in our population (0.41%) was approximately three times higher than of that observed at birth (0.12-0.17%; P<0.001). The total incidence of constitutional chromosome abnormalities in the non-DS hematologic patients was 0.168% (7 of 4164) lower than of that observed in the newborn population (0.51-0.67%; P<0.001). Nonsignificant differences were found when the incidences of structural aberrations and sex chromosome anomalies were individually compared with the data of the overall population. Our results suggest that the presence of a CCA, other than DS, would not predispose patients to hematologic malignancies. © 2002 Elsevier Science Inc. All rights reserved. |
publishDate |
2002 |
dc.date.none.fl_str_mv |
2002-04 |
dc.type.none.fl_str_mv |
info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion http://purl.org/coar/resource_type/c_6501 info:ar-repo/semantics/articulo |
format |
article |
status_str |
publishedVersion |
dc.identifier.none.fl_str_mv |
http://hdl.handle.net/11336/54827 Cerretini, Roxana; Acevedo, Susana Haydee; Chena, Christian; Belli, Carolina Bárbara; Larripa, Irene Beatriz; et al.; Evaluation of constitutional chromosome aberrations in hematologic disorders; Elsevier Science Inc; Cancer Genetics And Cytogenetics; 134; 2; 4-2002; 133-137 0165-4608 CONICET Digital CONICET |
url |
http://hdl.handle.net/11336/54827 |
identifier_str_mv |
Cerretini, Roxana; Acevedo, Susana Haydee; Chena, Christian; Belli, Carolina Bárbara; Larripa, Irene Beatriz; et al.; Evaluation of constitutional chromosome aberrations in hematologic disorders; Elsevier Science Inc; Cancer Genetics And Cytogenetics; 134; 2; 4-2002; 133-137 0165-4608 CONICET Digital CONICET |
dc.language.none.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
info:eu-repo/semantics/altIdentifier/doi/10.1016/S0165-4608(01)00621-5 info:eu-repo/semantics/altIdentifier/url/https://www.sciencedirect.com/science/article/pii/S0165460801006215 |
dc.rights.none.fl_str_mv |
info:eu-repo/semantics/openAccess https://creativecommons.org/licenses/by-nc-sa/2.5/ar/ |
eu_rights_str_mv |
openAccess |
rights_invalid_str_mv |
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/ |
dc.format.none.fl_str_mv |
application/pdf application/pdf |
dc.publisher.none.fl_str_mv |
Elsevier Science Inc |
publisher.none.fl_str_mv |
Elsevier Science Inc |
dc.source.none.fl_str_mv |
reponame:CONICET Digital (CONICET) instname:Consejo Nacional de Investigaciones Científicas y Técnicas |
reponame_str |
CONICET Digital (CONICET) |
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CONICET Digital (CONICET) |
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Consejo Nacional de Investigaciones Científicas y Técnicas |
repository.name.fl_str_mv |
CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas |
repository.mail.fl_str_mv |
dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar |
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13.13397 |