Deletion 21q22.3 and duplication 7q35q36.3 in a Colombian girl: A case report

Genetic disorders are a major cause in the etiology of cases with intellectual disability; however, analysis by a conventional technique such as cytogenetic karyotyping only allows the detection of chromosomal alterations in approximately 9.5 % of cases. The inclusion of new technologies such as hig...

Full description

Autores:
Ruiz-Botero, Felipe
Pachajoa Londoño, Harry Mauricio
Tipo de recurso:
Article of investigation
Fecha de publicación:
2016
Institución:
Universidad ICESI
Repositorio:
Repositorio ICESI
Idioma:
eng
OAI Identifier:
oai:repository.icesi.edu.co:10906/81647
Acceso en línea:
http://hdl.handle.net/10906/81647
http://dx.doi.org/10.1186/s13256-016-0988-2
Palabra clave:
Ciencias socio biomédicas
Hibridación genómica comparativa
Discapacidad intelectual
Medical sciences
Hibridación genómica comparativa
Trastornos genéticos
Rights
openAccess
License
https://creativecommons.org/licenses/by-nc-nd/4.0/
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oai_identifier_str oai:repository.icesi.edu.co:10906/81647
network_acronym_str ICESI2
network_name_str Repositorio ICESI
repository_id_str
spelling Ruiz-Botero, FelipePachajoa Londoño, Harry MauricioLondres de Lat: 51 30 51 N degrees minutes Lat: 51.5142 decimal degrees Long: 000 05 35 W degrees minutes Long: -0.0931 decimal degrees2017-06-08T14:31:14Z2017-06-08T14:31:14Z2016-07-271752-1947http://hdl.handle.net/10906/81647http://dx.doi.org/10.1186/s13256-016-0988-2instname: Universidad Icesireponame: Biblioteca Digitalrepourl: https://repository.icesi.edu.co/Genetic disorders are a major cause in the etiology of cases with intellectual disability; however, analysis by a conventional technique such as cytogenetic karyotyping only allows the detection of chromosomal alterations in approximately 9.5 % of cases. The inclusion of new technologies such as high resolution microarray analysis has allowed the study of alterations in chromosomal segments that are less than 5 Mb in length; this has led to an increase in the diagnosis of these patients of up to 25 %.7 páginasDigitalapplication/pdfengBioMed CentralFacultad Ciencias de la SaludMedicinaDepartamento de Ciencias Básicas MédicasLondresJournal of Medical Case Reports, Vol. 10, No.1-2016EL 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 biomédicasHibridación genómica comparativaDiscapacidad intelectualMedical sciencesHibridación genómica comparativaTrastornos genéticosDeletion 21q22.3 and duplication 7q35q36.3 in a Colombian girl: A case reportinfo:eu-repo/semantics/articlehttp://purl.org/coar/resource_type/c_2df8fbb1Artículoinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/version/c_970fb48d4fbd8a85Comunidad Universidad Icesi – Investigadores10117TEXTruiz_deletion_ 21q_2016.pdf.txtruiz_deletion_ 21q_2016.pdf.txttext/plain25346http://repository.icesi.edu.co/biblioteca_digital/bitstream/10906/81647/2/ruiz_deletion_%2021q_2016.pdf.txt23ce292737fe4e98cdc3247d17c16cbfMD52ORIGINALruiz_deletion_ 21q_2016.pdfruiz_deletion_ 21q_2016.pdfapplication/pdf2083367http://repository.icesi.edu.co/biblioteca_digital/bitstream/10906/81647/1/ruiz_deletion_%2021q_2016.pdf1b9986372a209898a09a4beb757f1bf2MD5110906/81647oai:repository.icesi.edu.co:10906/816472017-09-06 22:16:13.724Biblioteca Digital - Universidad icesicdcriollo@icesi.edu.co
dc.title.spa.fl_str_mv Deletion 21q22.3 and duplication 7q35q36.3 in a Colombian girl: A case report
title Deletion 21q22.3 and duplication 7q35q36.3 in a Colombian girl: A case report
spellingShingle Deletion 21q22.3 and duplication 7q35q36.3 in a Colombian girl: A case report
Ciencias socio biomédicas
Hibridación genómica comparativa
Discapacidad intelectual
Medical sciences
Hibridación genómica comparativa
Trastornos genéticos
title_short Deletion 21q22.3 and duplication 7q35q36.3 in a Colombian girl: A case report
title_full Deletion 21q22.3 and duplication 7q35q36.3 in a Colombian girl: A case report
title_fullStr Deletion 21q22.3 and duplication 7q35q36.3 in a Colombian girl: A case report
title_full_unstemmed Deletion 21q22.3 and duplication 7q35q36.3 in a Colombian girl: A case report
title_sort Deletion 21q22.3 and duplication 7q35q36.3 in a Colombian girl: A case report
dc.creator.fl_str_mv Ruiz-Botero, Felipe
Pachajoa Londoño, Harry Mauricio
dc.contributor.author.spa.fl_str_mv Ruiz-Botero, Felipe
Pachajoa Londoño, Harry Mauricio
dc.subject.spa.fl_str_mv Ciencias socio biomédicas
Hibridación genómica comparativa
Discapacidad intelectual
topic Ciencias socio biomédicas
Hibridación genómica comparativa
Discapacidad intelectual
Medical sciences
Hibridación genómica comparativa
Trastornos genéticos
dc.subject.eng.fl_str_mv Medical sciences
dc.subject.none.fl_str_mv Hibridación genómica comparativa
Trastornos genéticos
description Genetic disorders are a major cause in the etiology of cases with intellectual disability; however, analysis by a conventional technique such as cytogenetic karyotyping only allows the detection of chromosomal alterations in approximately 9.5 % of cases. The inclusion of new technologies such as high resolution microarray analysis has allowed the study of alterations in chromosomal segments that are less than 5 Mb in length; this has led to an increase in the diagnosis of these patients of up to 25 %.
publishDate 2016
dc.date.issued.none.fl_str_mv 2016-07-27
dc.date.accessioned.none.fl_str_mv 2017-06-08T14:31:14Z
dc.date.available.none.fl_str_mv 2017-06-08T14:31:14Z
dc.type.spa.fl_str_mv info:eu-repo/semantics/article
dc.type.coar.none.fl_str_mv http://purl.org/coar/resource_type/c_2df8fbb1
dc.type.local.spa.fl_str_mv Artículo
dc.type.version.eng.fl_str_mv info:eu-repo/semantics/publishedVersion
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dc.identifier.uri.none.fl_str_mv http://hdl.handle.net/10906/81647
dc.identifier.doi.none.fl_str_mv http://dx.doi.org/10.1186/s13256-016-0988-2
dc.identifier.instname.none.fl_str_mv instname: Universidad Icesi
dc.identifier.reponame.none.fl_str_mv reponame: Biblioteca Digital
dc.identifier.repourl.none.fl_str_mv repourl: https://repository.icesi.edu.co/
identifier_str_mv 1752-1947
instname: Universidad Icesi
reponame: Biblioteca Digital
repourl: https://repository.icesi.edu.co/
url http://hdl.handle.net/10906/81647
http://dx.doi.org/10.1186/s13256-016-0988-2
dc.language.iso.eng.fl_str_mv eng
language eng
dc.relation.ispartof.none.fl_str_mv Journal of Medical Case Reports, Vol. 10, No.1-2016
dc.rights.uri.none.fl_str_mv https://creativecommons.org/licenses/by-nc-nd/4.0/
dc.rights.accessrights.spa.fl_str_mv info:eu-repo/semantics/openAccess
dc.rights.license.none.fl_str_mv Atribución-NoComercial-SinDerivadas 4.0 Internacional (CC BY-NC-ND 4.0)
dc.rights.coar.none.fl_str_mv http://purl.org/coar/access_right/c_abf2
rights_invalid_str_mv https://creativecommons.org/licenses/by-nc-nd/4.0/
Atribución-NoComercial-SinDerivadas 4.0 Internacional (CC BY-NC-ND 4.0)
http://purl.org/coar/access_right/c_abf2
eu_rights_str_mv openAccess
dc.format.extent.none.fl_str_mv 7 páginas
dc.format.medium.spa.fl_str_mv Digital
dc.format.mimetype.spa.fl_str_mv application/pdf
dc.coverage.spatial.none.fl_str_mv Londres de Lat: 51 30 51 N degrees minutes Lat: 51.5142 decimal degrees Long: 000 05 35 W degrees minutes Long: -0.0931 decimal degrees
dc.publisher.none.fl_str_mv BioMed Central
dc.publisher.faculty.spa.fl_str_mv Facultad Ciencias de la Salud
dc.publisher.program.spa.fl_str_mv Medicina
dc.publisher.department.spa.fl_str_mv Departamento de Ciencias Básicas Médicas
dc.publisher.place.spa.fl_str_mv Londres
publisher.none.fl_str_mv BioMed Central
institution Universidad ICESI
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