Chromosomal Analysis in a Population Sample of Patients with Reproductive Problems of the Province of Misiones (1990-2019)
In Argentina, the rights of every person to motherhood, paternity, and reproductive health care, as part of human rights, is recognized by the National Constitution, international treaties and new laws, among which the most notable are: Law 25,673 on Sexual Health and Responsible Procreation and the...
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| description | In Argentina, the rights of every person to motherhood, paternity, and reproductive health care, as part of human rights, is recognized by the National Constitution, international treaties and new laws, among which the most notable are: Law 25,673 on Sexual Health and Responsible Procreation and the National Law on Assisted Human Fertilization 26,862, enacted in Argentina in 2013. The latter law “aims to guarantee comprehensive access to medical care procedures and techniques for medically assisted reproduction” to all older people with reproductive problems. Although the passage of this law was important for a particular group of the population, it is also necessary to recognize that people can access the health system for a variety of situations related to reproductive health. To achieve this, it is important that the teams are prepared to assess each particular situation so that a timely response and attention can be given. In Reproductive Medicine, cytogenetics provides valuable information about the Chromosomal Genetic Factor, and the study of frequencies of chromosomal anomalies not only helps to improve the approach to reproductive problems, but also to propose new lines in the health system, which contributes to this improvement. The present study determined the frequencies of chromosomal anomalies in patients with reproductive problems or associated disorders that were referred to the UNaM-IPS Cytogenetics and Human Genetics Laboratory, over a period of 29 years (1990 to 2019) in the Province of Misiones, Argentina. A cross-sectional study was carried out with retrospective data collection, in 1231 patients referred from different Health Centers of the Province and medical offices, affiliated with the Social Security Institute, where the human cytogenetics service is provided. In addition, patient samples were analyzed during the period 2015 to 2019. Chromosome preparations were obtained by culturing lymphocytes in peripheral blood using the GTG Banding technique for the analysis of the entire chromosome complement. The C and NORs banding served to confirm and/or rule out polymorphic variants. The statistical data obtained showed that 3.49% (n=43) of the karyotypes presented chromosomal abnormalities, 95.46% (n=1175) were normal karyotypes and only 1% (n=13) of the cases, the karyotype could not be determined. Among the karyotypes with chromosomopathies, 55.81% (n=24) presented structural anomalies, while mosaics (structural and/or numerical) were |
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| fullrecord | <record><control><sourceid>dialnet</sourceid><recordid>TN_cdi_dialnet_primary_oai_dialnet_unirioja_es_ART0001660883</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>oai_dialnet_unirioja_es_ART0001660883</sourcerecordid><originalsourceid>FETCH-dialnet_primary_oai_dialnet_unirioja_es_ART00016608833</originalsourceid><addsrcrecordid>eNqljEFLAzEUhBdRsGj_wzvqYSHpstsseClF8SIstffw2qbskyRvyctW6q-3FgXvPc3Mx8xcFRNtal3OazO__udvi6kIbZRWM1WZpp4UX8s-cWDhgB4WEf1RSIAiIHQ8jB4zcYR3DIN3wHvoTsDFLPBJuYeVGxLvxm2mg4Mu8ca7ID-13J_zgeL2PHsjOf04gQfdtqqcKd0-3hc3e_Tipr96Vzy9PK-Xr-WO0EeX7ZAoYDpaRrJ_bIyUiD_QOrGL1VoppZtGGVNVF86_AYE0YiE</addsrcrecordid><sourcetype>Open Website</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype></control><display><type>article</type><title>Chromosomal Analysis in a Population Sample of Patients with Reproductive Problems of the Province of Misiones (1990-2019)</title><source>DOAJ Directory of Open Access Journals</source><source>Dialnet</source><creator>Rolón, A ; Fenocchio, Alberto S ; Melnichuk, A ; Caffetti, Jacqueline D ; Garcete, Lucila M ; Reinko, Ivana N</creator><creatorcontrib>Rolón, A ; Fenocchio, Alberto S ; Melnichuk, A ; Caffetti, Jacqueline D ; Garcete, Lucila M ; Reinko, Ivana N</creatorcontrib><description>In Argentina, the rights of every person to motherhood, paternity, and reproductive health care, as part of human rights, is recognized by the National Constitution, international treaties and new laws, among which the most notable are: Law 25,673 on Sexual Health and Responsible Procreation and the National Law on Assisted Human Fertilization 26,862, enacted in Argentina in 2013. The latter law “aims to guarantee comprehensive access to medical care procedures and techniques for medically assisted reproduction” to all older people with reproductive problems. Although the passage of this law was important for a particular group of the population, it is also necessary to recognize that people can access the health system for a variety of situations related to reproductive health. To achieve this, it is important that the teams are prepared to assess each particular situation so that a timely response and attention can be given. In Reproductive Medicine, cytogenetics provides valuable information about the Chromosomal Genetic Factor, and the study of frequencies of chromosomal anomalies not only helps to improve the approach to reproductive problems, but also to propose new lines in the health system, which contributes to this improvement. The present study determined the frequencies of chromosomal anomalies in patients with reproductive problems or associated disorders that were referred to the UNaM-IPS Cytogenetics and Human Genetics Laboratory, over a period of 29 years (1990 to 2019) in the Province of Misiones, Argentina. A cross-sectional study was carried out with retrospective data collection, in 1231 patients referred from different Health Centers of the Province and medical offices, affiliated with the Social Security Institute, where the human cytogenetics service is provided. In addition, patient samples were analyzed during the period 2015 to 2019. Chromosome preparations were obtained by culturing lymphocytes in peripheral blood using the GTG Banding technique for the analysis of the entire chromosome complement. The C and NORs banding served to confirm and/or rule out polymorphic variants. The statistical data obtained showed that 3.49% (n=43) of the karyotypes presented chromosomal abnormalities, 95.46% (n=1175) were normal karyotypes and only 1% (n=13) of the cases, the karyotype could not be determined. Among the karyotypes with chromosomopathies, 55.81% (n=24) presented structural anomalies, while mosaics (structural and/or numerical) were observed in 32.56% (n=14) and 11.56% (n=5) chromosomal aneuploidies were detected. On the other hand, 1.36% (n=16) presented polymorphic variants. Likewise, it was possible to determine the presence of a 46, XY karyotype with a female phenotype. This work represents a pioneering analysis referring to cytogenetic data associated with reproductive problems.
En Argentina, los derechos de toda persona a la maternidad, paternidad, y a la atención de su salud reproductiva, como parte de los derechos humanos están reconocidos por la Constitución Nacional, tratados internacionales y nuevas leyes, entre las cuales las más destacadas son: la Ley 25.673 de Salud sexual y Procreación Responsable y la Ley Nacional de Fertilización Humana Asistida 26.862, sancionada en Argentina en el 2013. Esta última “tiene por objeto garantizar el acceso integral a los procedimientos y técnicas médico asistenciales de reproducción medicamente asistida” a todas las personas mayores de edad con problemas reproductivos. Si bien fue importante la sanción de esta ley para un grupo particular de la población, también es necesario reconocer que las personas pueden acceder al sistema de salud por una variedad de situaciones relacionadas con la salud reproductiva. Para ello, es importante que los equipos estén preparados para valorar cada situación particular de manera que se pueda dar una respuesta y atención oportuna. En Medicina Reproductiva, la citogenética aporta información valiosa sobre el Factor Genético Cromosómico, y el estudio de frecuencias de anomalías cromosómicas no sólo ayuda a mejorar el abordaje de problemas reproductivos, sino también a plantear nuevas líneas en el sistema de salud, que contribuyan a esta mejora. El presente estudio, determinó las frecuencias de anomalías cromosómicas en pacientes con problemas reproductivos o con trastornos asociados que fueron derivados al Laboratorio de Citogenética y Genética Humana UNaM-IPS, en un período de 29 años (1990 a 2019) en la Provincia de Misiones, Argentina. Se realizó un estudio transversal con recolección retrospectiva de datos, en 1231 pacientes derivados de diferentes Centros de Salud de la Provincia y consultorios médicos, afiliados al Instituto de Previsión Social, donde se brinda el servicio de citogenética humana. Además, se analizaron muestras de pacientes durante el período 2015 a 2019. Las preparaciones cromosómicas se obtuvieron mediante el cultivo de linfocitos en sangre periférica empleando la técnica de Bandeo GTG para el análisis de todo el complemento cromosómico. Los bandeos C y NORs sirvieron para confirmar y/o descartar variantes polimórficas. Los datos estadísticos obtenidos evidenciaron que el 3,49 % (n=43) de los cariotipos presentaron anomalías cromosómicas, el 95,46 % (n=1175) fueron cariotipos normales y solo en un 1% (n=13) de los casos, el cariotipo no pudo determinarse. Dentro de los cariotipos con cromosomopatías un 55,81 % (n=24) presentaron anomalías estructurales, mientras que en el 32,56% (n=14) se observaron mosaicos (estructurales y/o numéricos) y en un 11,56% (n=5) se detectaron aneuploidías cromosómicas. Por otro lado, el 1,36% (n=16) presentaron variantes polimórficas. Asimismo, fue posible determinar la presencia de un cariotipo 46, XY con fenotipo femenino. Este trabajo representa un análisis pionero referido a datos citogenéticos asociados a problemas reproductivos.</description><identifier>ISSN: 1851-7587</identifier><identifier>ISSN: 0329-8922</identifier><identifier>EISSN: 1851-7587</identifier><language>eng</language><subject>Anomalías Cromosómicas ; Chromosomal Abnormalities ; Citogenética Humana ; Fertilidad ; Fertility ; Human Cytogenetics ; Province of Misiones ; Provincia de Misiones</subject><ispartof>Revista de ciencia y tecnología, 2024, Vol.40 (1), p.42-43</ispartof><rights>LICENCIA DE USO: Los documentos a texto completo incluidos en Dialnet son de acceso libre y propiedad de sus autores y/o editores. Por tanto, cualquier acto de reproducción, distribución, comunicación pública y/o transformación total o parcial requiere el consentimiento expreso y escrito de aquéllos. Cualquier enlace al texto completo de estos documentos deberá hacerse a través de la URL oficial de éstos en Dialnet. Más información: https://dialnet.unirioja.es/info/derechosOAI | INTELLECTUAL PROPERTY RIGHTS STATEMENT: Full text documents hosted by Dialnet are protected by copyright and/or related rights. This digital object is accessible without charge, but its use is subject to the licensing conditions set by its authors or editors. Unless expressly stated otherwise in the licensing conditions, you are free to linking, browsing, printing and making a copy for your own personal purposes. All other acts of reproduction and communication to the public are subject to the licensing conditions expressed by editors and authors and require consent from them. Any link to this document should be made using its official URL in Dialnet. More info: https://dialnet.unirioja.es/info/derechosOAI</rights><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,874,4022</link.rule.ids></links><search><creatorcontrib>Rolón, A</creatorcontrib><creatorcontrib>Fenocchio, Alberto S</creatorcontrib><creatorcontrib>Melnichuk, A</creatorcontrib><creatorcontrib>Caffetti, Jacqueline D</creatorcontrib><creatorcontrib>Garcete, Lucila M</creatorcontrib><creatorcontrib>Reinko, Ivana N</creatorcontrib><title>Chromosomal Analysis in a Population Sample of Patients with Reproductive Problems of the Province of Misiones (1990-2019)</title><title>Revista de ciencia y tecnología</title><description>In Argentina, the rights of every person to motherhood, paternity, and reproductive health care, as part of human rights, is recognized by the National Constitution, international treaties and new laws, among which the most notable are: Law 25,673 on Sexual Health and Responsible Procreation and the National Law on Assisted Human Fertilization 26,862, enacted in Argentina in 2013. The latter law “aims to guarantee comprehensive access to medical care procedures and techniques for medically assisted reproduction” to all older people with reproductive problems. Although the passage of this law was important for a particular group of the population, it is also necessary to recognize that people can access the health system for a variety of situations related to reproductive health. To achieve this, it is important that the teams are prepared to assess each particular situation so that a timely response and attention can be given. In Reproductive Medicine, cytogenetics provides valuable information about the Chromosomal Genetic Factor, and the study of frequencies of chromosomal anomalies not only helps to improve the approach to reproductive problems, but also to propose new lines in the health system, which contributes to this improvement. The present study determined the frequencies of chromosomal anomalies in patients with reproductive problems or associated disorders that were referred to the UNaM-IPS Cytogenetics and Human Genetics Laboratory, over a period of 29 years (1990 to 2019) in the Province of Misiones, Argentina. A cross-sectional study was carried out with retrospective data collection, in 1231 patients referred from different Health Centers of the Province and medical offices, affiliated with the Social Security Institute, where the human cytogenetics service is provided. In addition, patient samples were analyzed during the period 2015 to 2019. Chromosome preparations were obtained by culturing lymphocytes in peripheral blood using the GTG Banding technique for the analysis of the entire chromosome complement. The C and NORs banding served to confirm and/or rule out polymorphic variants. The statistical data obtained showed that 3.49% (n=43) of the karyotypes presented chromosomal abnormalities, 95.46% (n=1175) were normal karyotypes and only 1% (n=13) of the cases, the karyotype could not be determined. Among the karyotypes with chromosomopathies, 55.81% (n=24) presented structural anomalies, while mosaics (structural and/or numerical) were observed in 32.56% (n=14) and 11.56% (n=5) chromosomal aneuploidies were detected. On the other hand, 1.36% (n=16) presented polymorphic variants. Likewise, it was possible to determine the presence of a 46, XY karyotype with a female phenotype. This work represents a pioneering analysis referring to cytogenetic data associated with reproductive problems.
En Argentina, los derechos de toda persona a la maternidad, paternidad, y a la atención de su salud reproductiva, como parte de los derechos humanos están reconocidos por la Constitución Nacional, tratados internacionales y nuevas leyes, entre las cuales las más destacadas son: la Ley 25.673 de Salud sexual y Procreación Responsable y la Ley Nacional de Fertilización Humana Asistida 26.862, sancionada en Argentina en el 2013. Esta última “tiene por objeto garantizar el acceso integral a los procedimientos y técnicas médico asistenciales de reproducción medicamente asistida” a todas las personas mayores de edad con problemas reproductivos. Si bien fue importante la sanción de esta ley para un grupo particular de la población, también es necesario reconocer que las personas pueden acceder al sistema de salud por una variedad de situaciones relacionadas con la salud reproductiva. Para ello, es importante que los equipos estén preparados para valorar cada situación particular de manera que se pueda dar una respuesta y atención oportuna. En Medicina Reproductiva, la citogenética aporta información valiosa sobre el Factor Genético Cromosómico, y el estudio de frecuencias de anomalías cromosómicas no sólo ayuda a mejorar el abordaje de problemas reproductivos, sino también a plantear nuevas líneas en el sistema de salud, que contribuyan a esta mejora. El presente estudio, determinó las frecuencias de anomalías cromosómicas en pacientes con problemas reproductivos o con trastornos asociados que fueron derivados al Laboratorio de Citogenética y Genética Humana UNaM-IPS, en un período de 29 años (1990 a 2019) en la Provincia de Misiones, Argentina. Se realizó un estudio transversal con recolección retrospectiva de datos, en 1231 pacientes derivados de diferentes Centros de Salud de la Provincia y consultorios médicos, afiliados al Instituto de Previsión Social, donde se brinda el servicio de citogenética humana. Además, se analizaron muestras de pacientes durante el período 2015 a 2019. Las preparaciones cromosómicas se obtuvieron mediante el cultivo de linfocitos en sangre periférica empleando la técnica de Bandeo GTG para el análisis de todo el complemento cromosómico. Los bandeos C y NORs sirvieron para confirmar y/o descartar variantes polimórficas. Los datos estadísticos obtenidos evidenciaron que el 3,49 % (n=43) de los cariotipos presentaron anomalías cromosómicas, el 95,46 % (n=1175) fueron cariotipos normales y solo en un 1% (n=13) de los casos, el cariotipo no pudo determinarse. Dentro de los cariotipos con cromosomopatías un 55,81 % (n=24) presentaron anomalías estructurales, mientras que en el 32,56% (n=14) se observaron mosaicos (estructurales y/o numéricos) y en un 11,56% (n=5) se detectaron aneuploidías cromosómicas. Por otro lado, el 1,36% (n=16) presentaron variantes polimórficas. Asimismo, fue posible determinar la presencia de un cariotipo 46, XY con fenotipo femenino. Este trabajo representa un análisis pionero referido a datos citogenéticos asociados a problemas reproductivos.</description><subject>Anomalías Cromosómicas</subject><subject>Chromosomal Abnormalities</subject><subject>Citogenética Humana</subject><subject>Fertilidad</subject><subject>Fertility</subject><subject>Human Cytogenetics</subject><subject>Province of Misiones</subject><subject>Provincia de Misiones</subject><issn>1851-7587</issn><issn>0329-8922</issn><issn>1851-7587</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2024</creationdate><recordtype>article</recordtype><sourceid>FKZ</sourceid><recordid>eNqljEFLAzEUhBdRsGj_wzvqYSHpstsseClF8SIstffw2qbskyRvyctW6q-3FgXvPc3Mx8xcFRNtal3OazO__udvi6kIbZRWM1WZpp4UX8s-cWDhgB4WEf1RSIAiIHQ8jB4zcYR3DIN3wHvoTsDFLPBJuYeVGxLvxm2mg4Mu8ca7ID-13J_zgeL2PHsjOf04gQfdtqqcKd0-3hc3e_Tipr96Vzy9PK-Xr-WO0EeX7ZAoYDpaRrJ_bIyUiD_QOrGL1VoppZtGGVNVF86_AYE0YiE</recordid><startdate>2024</startdate><enddate>2024</enddate><creator>Rolón, A</creator><creator>Fenocchio, Alberto S</creator><creator>Melnichuk, A</creator><creator>Caffetti, Jacqueline D</creator><creator>Garcete, Lucila M</creator><creator>Reinko, Ivana N</creator><scope>AGMXS</scope><scope>FKZ</scope></search><sort><creationdate>2024</creationdate><title>Chromosomal Analysis in a Population Sample of Patients with Reproductive Problems of the Province of Misiones (1990-2019)</title><author>Rolón, A ; Fenocchio, Alberto S ; Melnichuk, A ; Caffetti, Jacqueline D ; Garcete, Lucila M ; Reinko, Ivana N</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-dialnet_primary_oai_dialnet_unirioja_es_ART00016608833</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2024</creationdate><topic>Anomalías Cromosómicas</topic><topic>Chromosomal Abnormalities</topic><topic>Citogenética Humana</topic><topic>Fertilidad</topic><topic>Fertility</topic><topic>Human Cytogenetics</topic><topic>Province of Misiones</topic><topic>Provincia de Misiones</topic><toplevel>online_resources</toplevel><creatorcontrib>Rolón, A</creatorcontrib><creatorcontrib>Fenocchio, Alberto S</creatorcontrib><creatorcontrib>Melnichuk, A</creatorcontrib><creatorcontrib>Caffetti, Jacqueline D</creatorcontrib><creatorcontrib>Garcete, Lucila M</creatorcontrib><creatorcontrib>Reinko, Ivana N</creatorcontrib><collection>Dialnet (Open Access Full Text)</collection><collection>Dialnet</collection><jtitle>Revista de ciencia y tecnología</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Rolón, A</au><au>Fenocchio, Alberto S</au><au>Melnichuk, A</au><au>Caffetti, Jacqueline D</au><au>Garcete, Lucila M</au><au>Reinko, Ivana N</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Chromosomal Analysis in a Population Sample of Patients with Reproductive Problems of the Province of Misiones (1990-2019)</atitle><jtitle>Revista de ciencia y tecnología</jtitle><date>2024</date><risdate>2024</risdate><volume>40</volume><issue>1</issue><spage>42</spage><epage>43</epage><pages>42-43</pages><issn>1851-7587</issn><issn>0329-8922</issn><eissn>1851-7587</eissn><abstract>In Argentina, the rights of every person to motherhood, paternity, and reproductive health care, as part of human rights, is recognized by the National Constitution, international treaties and new laws, among which the most notable are: Law 25,673 on Sexual Health and Responsible Procreation and the National Law on Assisted Human Fertilization 26,862, enacted in Argentina in 2013. The latter law “aims to guarantee comprehensive access to medical care procedures and techniques for medically assisted reproduction” to all older people with reproductive problems. Although the passage of this law was important for a particular group of the population, it is also necessary to recognize that people can access the health system for a variety of situations related to reproductive health. To achieve this, it is important that the teams are prepared to assess each particular situation so that a timely response and attention can be given. In Reproductive Medicine, cytogenetics provides valuable information about the Chromosomal Genetic Factor, and the study of frequencies of chromosomal anomalies not only helps to improve the approach to reproductive problems, but also to propose new lines in the health system, which contributes to this improvement. The present study determined the frequencies of chromosomal anomalies in patients with reproductive problems or associated disorders that were referred to the UNaM-IPS Cytogenetics and Human Genetics Laboratory, over a period of 29 years (1990 to 2019) in the Province of Misiones, Argentina. A cross-sectional study was carried out with retrospective data collection, in 1231 patients referred from different Health Centers of the Province and medical offices, affiliated with the Social Security Institute, where the human cytogenetics service is provided. In addition, patient samples were analyzed during the period 2015 to 2019. Chromosome preparations were obtained by culturing lymphocytes in peripheral blood using the GTG Banding technique for the analysis of the entire chromosome complement. The C and NORs banding served to confirm and/or rule out polymorphic variants. The statistical data obtained showed that 3.49% (n=43) of the karyotypes presented chromosomal abnormalities, 95.46% (n=1175) were normal karyotypes and only 1% (n=13) of the cases, the karyotype could not be determined. Among the karyotypes with chromosomopathies, 55.81% (n=24) presented structural anomalies, while mosaics (structural and/or numerical) were observed in 32.56% (n=14) and 11.56% (n=5) chromosomal aneuploidies were detected. On the other hand, 1.36% (n=16) presented polymorphic variants. Likewise, it was possible to determine the presence of a 46, XY karyotype with a female phenotype. This work represents a pioneering analysis referring to cytogenetic data associated with reproductive problems.
En Argentina, los derechos de toda persona a la maternidad, paternidad, y a la atención de su salud reproductiva, como parte de los derechos humanos están reconocidos por la Constitución Nacional, tratados internacionales y nuevas leyes, entre las cuales las más destacadas son: la Ley 25.673 de Salud sexual y Procreación Responsable y la Ley Nacional de Fertilización Humana Asistida 26.862, sancionada en Argentina en el 2013. Esta última “tiene por objeto garantizar el acceso integral a los procedimientos y técnicas médico asistenciales de reproducción medicamente asistida” a todas las personas mayores de edad con problemas reproductivos. Si bien fue importante la sanción de esta ley para un grupo particular de la población, también es necesario reconocer que las personas pueden acceder al sistema de salud por una variedad de situaciones relacionadas con la salud reproductiva. Para ello, es importante que los equipos estén preparados para valorar cada situación particular de manera que se pueda dar una respuesta y atención oportuna. En Medicina Reproductiva, la citogenética aporta información valiosa sobre el Factor Genético Cromosómico, y el estudio de frecuencias de anomalías cromosómicas no sólo ayuda a mejorar el abordaje de problemas reproductivos, sino también a plantear nuevas líneas en el sistema de salud, que contribuyan a esta mejora. El presente estudio, determinó las frecuencias de anomalías cromosómicas en pacientes con problemas reproductivos o con trastornos asociados que fueron derivados al Laboratorio de Citogenética y Genética Humana UNaM-IPS, en un período de 29 años (1990 a 2019) en la Provincia de Misiones, Argentina. Se realizó un estudio transversal con recolección retrospectiva de datos, en 1231 pacientes derivados de diferentes Centros de Salud de la Provincia y consultorios médicos, afiliados al Instituto de Previsión Social, donde se brinda el servicio de citogenética humana. Además, se analizaron muestras de pacientes durante el período 2015 a 2019. Las preparaciones cromosómicas se obtuvieron mediante el cultivo de linfocitos en sangre periférica empleando la técnica de Bandeo GTG para el análisis de todo el complemento cromosómico. Los bandeos C y NORs sirvieron para confirmar y/o descartar variantes polimórficas. Los datos estadísticos obtenidos evidenciaron que el 3,49 % (n=43) de los cariotipos presentaron anomalías cromosómicas, el 95,46 % (n=1175) fueron cariotipos normales y solo en un 1% (n=13) de los casos, el cariotipo no pudo determinarse. Dentro de los cariotipos con cromosomopatías un 55,81 % (n=24) presentaron anomalías estructurales, mientras que en el 32,56% (n=14) se observaron mosaicos (estructurales y/o numéricos) y en un 11,56% (n=5) se detectaron aneuploidías cromosómicas. Por otro lado, el 1,36% (n=16) presentaron variantes polimórficas. Asimismo, fue posible determinar la presencia de un cariotipo 46, XY con fenotipo femenino. Este trabajo representa un análisis pionero referido a datos citogenéticos asociados a problemas reproductivos.</abstract><oa>free_for_read</oa></addata></record> |
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| subjects | Anomalías Cromosómicas Chromosomal Abnormalities Citogenética Humana Fertilidad Fertility Human Cytogenetics Province of Misiones Provincia de Misiones |
| title | Chromosomal Analysis in a Population Sample of Patients with Reproductive Problems of the Province of Misiones (1990-2019) |
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