Mosaic trisomy 13 and a sacral appendage
Mosaic trisomy 13 occurs when there is a percentage of trisomic cells for an entire chromosome 13, while the remaining percentage of cells is euploid. The prevalence of this syndrome ranges from 1 in 10 000 to 1 in 20 000 births. Complete, partial or mosaic forms of this disorder can occur. The phen...
- Autores:
-
Pachajoa Londoño, Harry Mauricio
Meza Escobar, Luis Enrique.
- Tipo de recurso:
- Article of investigation
- Fecha de publicación:
- 2013
- Institución:
- Universidad ICESI
- Repositorio:
- Repositorio ICESI
- Idioma:
- spa
- OAI Identifier:
- oai:repository.icesi.edu.co:10906/78478
- Acceso en línea:
- http://www.scopus.com/inward/record.url?eid=2-s2.0-84882993396&partnerID=tZOtx3y1
http://hdl.handle.net/10906/78478
http://dx.doi.org/10.1136/bcr-2012-008150
- Palabra clave:
- Ciencias socio biomédicas
Medical sciences
Malformaciones congénitas
Labio leporino
Trisomía 13
Ultrasonido
- Rights
- openAccess
- License
- https://creativecommons.org/licenses/by-nc-nd/4.0/
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Pachajoa Londoño, Harry MauricioMeza Escobar, Luis Enrique.2015-10-13T21:06:00Z2015-10-13T21:06:00Z2013-07-311757-790Xhttp://www.scopus.com/inward/record.url?eid=2-s2.0-84882993396&partnerID=tZOtx3y1http://hdl.handle.net/10906/78478http://dx.doi.org/10.1136/bcr-2012-008150instname: Universidad Icesireponame: Biblioteca Digitalrepourl: https://repository.icesi.edu.co/Mosaic trisomy 13 occurs when there is a percentage of trisomic cells for an entire chromosome 13, while the remaining percentage of cells is euploid. The prevalence of this syndrome ranges from 1 in 10 000 to 1 in 20 000 births. Complete, partial or mosaic forms of this disorder can occur. The phenotype of mosaic trisomy 13 patients varies widely. Patients with mosaic trisomy 13 usually have a longer survival and a less severe phenotype compared to patients with complete trisomy 13. Genetic counselling is difficult due to the wide variation among the clinical manifestations of these patients. There have been 49 cases of mosaic trisomy 13 reported in the literature. We report the case of a patient with mosaic trisomy 13, a sacral appendage and a cleft lip and palate. Copyright 2013 BMJ Publishing Group. All rights reserved.Case report4 páginasDigitalapplication/pdfspaBMJ Case Reports, Vol. 2013 - 2013EL AUTOR, expresa que la obra objeto de la presente autorización es original y la elaboró sin quebrantar ni suplantar los derechos de autor de terceros, y de tal forma, la obra es de su exclusiva autoría y tiene la titularidad sobre éste. PARÁGRAFO: en caso de queja o acción por parte de un tercero referente a los derechos de autor sobre el artículo, folleto o libro en cuestión, EL AUTOR, asumirá la responsabilidad total, y saldrá en defensa de los derechos aquí autorizados; para todos los efectos, la Universidad Icesi actúa como un tercero de buena fe. Esta autorización, permite a la Universidad Icesi, de forma indefinida, para que en los términos establecidos en la Ley 23 de 1982, la Ley 44 de 1993, leyes y jurisprudencia vigente al respecto, haga publicación de este con fines educativos. Toda persona que consulte ya sea la biblioteca o en medio electrónico podrá copiar apartes del texto citando siempre la fuentes, es decir el título del trabajo y el autor.https://creativecommons.org/licenses/by-nc-nd/4.0/info:eu-repo/semantics/openAccessAtribución-NoComercial-SinDerivadas 4.0 Internacional (CC BY-NC-ND 4.0)http://purl.org/coar/access_right/c_abf2Ciencias socio biomédicasMedical sciencesMalformaciones congénitasLabio leporinoTrisomía 13UltrasonidoMosaic trisomy 13 and a sacral appendageinfo:eu-repo/semantics/articlehttp://purl.org/coar/resource_type/c_2df8fbb1Artículoinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/version/c_970fb48d4fbd8a85Facultad de Ciencias de la SaludMedicinaDepartamento Ciencias Básicas Médicas201314ORIGINALdocumento.htmldocumento.htmltext/html315http://repository.icesi.edu.co/biblioteca_digital/bitstream/10906/78478/1/documento.htmlc055759391faed2a5f0dd386bbd7d801MD5110906/78478oai:repository.icesi.edu.co:10906/784782018-10-08 10:43:27.559Biblioteca Digital - Universidad icesicdcriollo@icesi.edu.co |
| dc.title.spa.fl_str_mv |
Mosaic trisomy 13 and a sacral appendage |
| title |
Mosaic trisomy 13 and a sacral appendage |
| spellingShingle |
Mosaic trisomy 13 and a sacral appendage Ciencias socio biomédicas Medical sciences Malformaciones congénitas Labio leporino Trisomía 13 Ultrasonido |
| title_short |
Mosaic trisomy 13 and a sacral appendage |
| title_full |
Mosaic trisomy 13 and a sacral appendage |
| title_fullStr |
Mosaic trisomy 13 and a sacral appendage |
| title_full_unstemmed |
Mosaic trisomy 13 and a sacral appendage |
| title_sort |
Mosaic trisomy 13 and a sacral appendage |
| dc.creator.fl_str_mv |
Pachajoa Londoño, Harry Mauricio Meza Escobar, Luis Enrique. |
| dc.contributor.author.spa.fl_str_mv |
Pachajoa Londoño, Harry Mauricio Meza Escobar, Luis Enrique. |
| dc.subject.none.fl_str_mv |
Ciencias socio biomédicas Medical sciences Malformaciones congénitas Labio leporino Trisomía 13 Ultrasonido |
| topic |
Ciencias socio biomédicas Medical sciences Malformaciones congénitas Labio leporino Trisomía 13 Ultrasonido |
| description |
Mosaic trisomy 13 occurs when there is a percentage of trisomic cells for an entire chromosome 13, while the remaining percentage of cells is euploid. The prevalence of this syndrome ranges from 1 in 10 000 to 1 in 20 000 births. Complete, partial or mosaic forms of this disorder can occur. The phenotype of mosaic trisomy 13 patients varies widely. Patients with mosaic trisomy 13 usually have a longer survival and a less severe phenotype compared to patients with complete trisomy 13. Genetic counselling is difficult due to the wide variation among the clinical manifestations of these patients. There have been 49 cases of mosaic trisomy 13 reported in the literature. We report the case of a patient with mosaic trisomy 13, a sacral appendage and a cleft lip and palate. Copyright 2013 BMJ Publishing Group. All rights reserved. |
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2013 |
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2013-07-31 |
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http://dx.doi.org/10.1136/bcr-2012-008150 |
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instname: Universidad Icesi |
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reponame: Biblioteca Digital |
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spa |
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spa |
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BMJ Case Reports, Vol. 2013 - 2013 |
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4 páginas |
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