Revisión bibliográfica actualizada del síndrome Turner
Turner syndrome is characterized by being a genetic disorder exclusive to the female sex that develops in 1 out of 2500 women born alive, with a genotype formula karyotype 45X0 or by haploinsufficiency of the X chromosome. Its diagnosis is made by combining certain phenotypic characteristics associa...
- Autores:
-
López Velandia, Willington Eduardo
- Tipo de recurso:
- Trabajo de grado de pregrado
- Fecha de publicación:
- 2017
- Institución:
- Universidad de Ciencias Aplicadas y Ambientales U.D.C.A
- Repositorio:
- Repositorio Institucional UDCA
- Idioma:
- spa
- OAI Identifier:
- oai:repository.udca.edu.co:11158/850
- Acceso en línea:
- https://repository.udca.edu.co/handle/11158/850
- Palabra clave:
- Síndrome de Turner
Monosomía
Cromosopatía X
Síndrome de Turner -- Bibliografías
Cromosomas sexuales -- Anormalidades -- Bibliografías
- Rights
- closedAccess
- License
- Derechos Reservados - Universidad de Ciencias Aplicadas y Ambientales
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Revisión bibliográfica actualizada del síndrome Turner |
| title |
Revisión bibliográfica actualizada del síndrome Turner |
| spellingShingle |
Revisión bibliográfica actualizada del síndrome Turner Síndrome de Turner Monosomía Cromosopatía X Síndrome de Turner -- Bibliografías Cromosomas sexuales -- Anormalidades -- Bibliografías |
| title_short |
Revisión bibliográfica actualizada del síndrome Turner |
| title_full |
Revisión bibliográfica actualizada del síndrome Turner |
| title_fullStr |
Revisión bibliográfica actualizada del síndrome Turner |
| title_full_unstemmed |
Revisión bibliográfica actualizada del síndrome Turner |
| title_sort |
Revisión bibliográfica actualizada del síndrome Turner |
| dc.creator.fl_str_mv |
López Velandia, Willington Eduardo |
| dc.contributor.advisor.spa.fl_str_mv |
Onatra Herrera, William, dir. Tribiño, Gabriel Fernando, dir. |
| dc.contributor.author.spa.fl_str_mv |
López Velandia, Willington Eduardo |
| dc.contributor.corporatename.spa.fl_str_mv |
Universidad de Ciencias Aplicadas y Ambientales - UDCA |
| dc.subject.spa.fl_str_mv |
Síndrome de Turner Monosomía Cromosopatía X |
| topic |
Síndrome de Turner Monosomía Cromosopatía X Síndrome de Turner -- Bibliografías Cromosomas sexuales -- Anormalidades -- Bibliografías |
| dc.subject.lemb.spa.fl_str_mv |
Síndrome de Turner -- Bibliografías Cromosomas sexuales -- Anormalidades -- Bibliografías |
| description |
Turner syndrome is characterized by being a genetic disorder exclusive to the female sex that develops in 1 out of 2500 women born alive, with a genotype formula karyotype 45X0 or by haploinsufficiency of the X chromosome. Its diagnosis is made by combining certain phenotypic characteristics associated with a karyotype that reports the total or partial absence of the X chromosome; As a complementary paraclinic, the FISH test is used, in those cases where there is suspicion of mosaics or to confirm small remains of the Y chromosome, which gives it a certain degree of malignancy, since it is a risk factor for developing tumors of the germinal order such as gonadoblastoma. Its clinical presentation is based on the cytogenetic pattern, prevailing with short stature and ovarian failure. The first is generated by the haploinsufficiency of the SHOX gene in the short arm of the X chromosome (Xp) and in the second is attributed to the lack of the ZFX and DFFRX genes located in the long arm of the X chromosome (Xq); the treatment consists of the use of growth hormone and estrogen respectively. ST is associated with an increased risk of presenting clinical manifestations at the cardiovascular, renal, metabolic, endocrine, among others, which can put patients' lives at risk, for which they will require an adequate diagnosis that favors periodic follow-up. by several medical specialties in order to provide timely and relevant treatment. |
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2017 |
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2017 |
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2018-02-23T20:16:49Z |
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2018-02-23T20:16:49Z |
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Trabajo de grado - Pregrado |
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spa |
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spa |
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Derechos Reservados - Universidad de Ciencias Aplicadas y Ambientales |
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Onatra Herrera, William, dir.Tribiño, Gabriel Fernando, dir.López Velandia, Willington EduardoUniversidad de Ciencias Aplicadas y Ambientales - UDCA2018-02-23T20:16:49Z2018-02-23T20:16:49Z2017https://repository.udca.edu.co/handle/11158/850Turner syndrome is characterized by being a genetic disorder exclusive to the female sex that develops in 1 out of 2500 women born alive, with a genotype formula karyotype 45X0 or by haploinsufficiency of the X chromosome. Its diagnosis is made by combining certain phenotypic characteristics associated with a karyotype that reports the total or partial absence of the X chromosome; As a complementary paraclinic, the FISH test is used, in those cases where there is suspicion of mosaics or to confirm small remains of the Y chromosome, which gives it a certain degree of malignancy, since it is a risk factor for developing tumors of the germinal order such as gonadoblastoma. Its clinical presentation is based on the cytogenetic pattern, prevailing with short stature and ovarian failure. The first is generated by the haploinsufficiency of the SHOX gene in the short arm of the X chromosome (Xp) and in the second is attributed to the lack of the ZFX and DFFRX genes located in the long arm of the X chromosome (Xq); the treatment consists of the use of growth hormone and estrogen respectively. ST is associated with an increased risk of presenting clinical manifestations at the cardiovascular, renal, metabolic, endocrine, among others, which can put patients' lives at risk, for which they will require an adequate diagnosis that favors periodic follow-up. by several medical specialties in order to provide timely and relevant treatment.El síndrome de Turner se caracteriza por ser un trastorno genético exclusivo del sexo femenino que se desarrolla en 1 de cada 2500 mujeres nacidas vivas, con una formula genotípica cariotipo 45X0 o por la haploinsuficiencia del cromosoma X. Su diagnóstico se realiza mediante la combinación de ciertas características fenotípicas asociadas a un cariotipo que reporte la ausencia total o parcial del cromosoma X; como paraclínico complementario se utiliza la prueba de FISH, en aquellos casos que haya sospecha de mosaicos o para confirmar pequeños restos del cromosoma Y, el cual le aporta cierto grado de malignidad, al ser un factor de riesgo para desarrollar tumores del orden germinal como el gonadoblastoma. Su clínica se desarrolla en función del patrón citogenético, prevaleciendo la talla baja y la falla ovárica. La primera se genera por la haploinsuficiencia del gen SHOX en el brazo corto del cromosoma X (Xp) y en la segunda se atribuye a la falta de los genes ZFX y DFFRX ubicados en el brazo largo del cromosoma X (Xq); el tratamiento consiste en la utilización de la hormona del crecimiento y estrógenos respectivamente. El ST se asocia con un mayor riesgo de presentar manifestaciones clínicas a nivel cardiovascular, renal, metabólico, endocrino, entre otras, que pueden poner en riesgo la vida de las pacientes, por lo cual van a requerir un diagnóstico adecuado que favorezca un seguimiento periódico por parte de varias especialidades médicas con el fin de brindar un tratamiento oportuno y pertinente.PregradoMédico(a) CirujanopdfspaDerechos Reservados - Universidad de Ciencias Aplicadas y Ambientaleshttps://creativecommons.org/licenses/by-nc-sa/4.0/info:eu-repo/semantics/closedAccessAtribución-NoComercial-CompartirIgual 4.0 Internacional (CC BY-NC-SA 4.0)http://purl.org/coar/access_right/c_14cbSíndrome de TurnerMonosomíaCromosopatía XSíndrome de Turner -- BibliografíasCromosomas sexuales -- Anormalidades -- BibliografíasRevisión bibliográfica actualizada del síndrome TurnerTrabajo de grado - Pregradohttp://purl.org/coar/resource_type/c_7a1finfo:eu-repo/semantics/bachelorThesisinfo:eu-repo/semantics/publishedVersionhttp://purl.org/redcol/resource_type/TPhttp://purl.org/coar/version/c_970fb48d4fbd8a85Facultad de Ciencias de la SaludMedicinaPublicationTEXTREVISION BIBLIOGRAFICA ACTUALIZADA DEL SINDROME TURNER.pdf.txtREVISION BIBLIOGRAFICA ACTUALIZADA DEL SINDROME TURNER.pdf.txtExtracted texttext/plain125640https://repository.udca.edu.co/bitstreams/bdc36b8c-c280-4eaa-8679-126181e14809/downloada03692cf26eef0ee2a85216883b147ddMD53THUMBNAILREVISION BIBLIOGRAFICA ACTUALIZADA DEL SINDROME TURNER.pdf.jpgREVISION BIBLIOGRAFICA ACTUALIZADA DEL SINDROME TURNER.pdf.jpgGenerated Thumbnailimage/jpeg2779https://repository.udca.edu.co/bitstreams/bc704908-a2e2-4eb5-b790-5a0e7e0f5904/download29b8d1056502f297c8d687df06b32f8eMD54ORIGINALREVISION BIBLIOGRAFICA ACTUALIZADA DEL SINDROME TURNER.pdfREVISION BIBLIOGRAFICA ACTUALIZADA DEL SINDROME TURNER.pdfapplication/pdf591433https://repository.udca.edu.co/bitstreams/ece6fee1-b108-4575-83cd-352f2c0a0f32/downloadfaa4d3392bb7712b359368b209c59543MD51LICENSElicense.txtlicense.txttext/plain; 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