New microdeletion and microduplication syndromes : a comprehensive review
Autor(a) principal: | |
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Data de Publicação: | 2014 |
Outros Autores: | , , , , , , , , , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Institucional da UFRGS |
Texto Completo: | http://hdl.handle.net/10183/116917 |
Resumo: | Several new microdeletion and microduplication syndromes are emerging as disorders that have been proven to cause multisystem pathologies frequently associated with intellectual disability (ID), multiple congenital anomalies (MCA), autistic spectrum disorders (ASD) and other phenotypic findings. In this paper, we review the “new” and emergent microdeletion and microduplication syndromes that have been described and recognized in recent years with the aim of summarizing their main characteristics and chromosomal regions involved. We decided to group them by genomic region and within these groupings have classified them into those that include ID, MCA, ASD or other findings. This review does not intend to be exhaustive but is rather a quick guide to help pediatricians, clinical geneticists, cytogeneticists and/or molecular geneticists. |
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Nevado Blanco, JuliánMergener, RafaellaPalomares-Bralo, MaríaSouza, Karen Regina Silva deVallespín García, ElenaMena, RocíoMartínez-Glez, VíctorPalomino, María ÁngelesSantos Simarro, FernandoGarcía Miñaur, SixtoGarcía Santiago, Fé AmaliaMansilla Aparicio, ElenaFernández García-Moya, LuisTorres Pérez Hidalgo, María Luisa deMariluce Riegel, Mariluce RiegelLapunzina Badía, Pablo D.2015-05-22T02:00:28Z20141415-4757http://hdl.handle.net/10183/116917000942469Several new microdeletion and microduplication syndromes are emerging as disorders that have been proven to cause multisystem pathologies frequently associated with intellectual disability (ID), multiple congenital anomalies (MCA), autistic spectrum disorders (ASD) and other phenotypic findings. In this paper, we review the “new” and emergent microdeletion and microduplication syndromes that have been described and recognized in recent years with the aim of summarizing their main characteristics and chromosomal regions involved. We decided to group them by genomic region and within these groupings have classified them into those that include ID, MCA, ASD or other findings. This review does not intend to be exhaustive but is rather a quick guide to help pediatricians, clinical geneticists, cytogeneticists and/or molecular geneticists.application/pdfengGenetics and molecular biology. Ribeirão Preto, SP. Vol. 37, no. 1, suppl. 1 (2014), p. 210-219.Duplicação cromossômicaDeleção cromossômicaRearranjo gênicoMicrodeletionMicroduplicationChromosome rearrangementNovel deletionsNovel duplicationsNew microdeletion and microduplication syndromes : a comprehensive reviewinfo:eu-repo/semantics/articleinfo:eu-repo/semantics/otherinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da UFRGSinstname:Universidade Federal do Rio Grande do Sul (UFRGS)instacron:UFRGSORIGINAL000942469.pdf000942469.pdfTexto completo (inglês)application/pdf3630339http://www.lume.ufrgs.br/bitstream/10183/116917/1/000942469.pdf04cab75935ba276641808b99cb97eb8aMD51TEXT000942469.pdf.txt000942469.pdf.txtExtracted Texttext/plain37398http://www.lume.ufrgs.br/bitstream/10183/116917/2/000942469.pdf.txtd551613d480338977e01a7d7cfd426e9MD52THUMBNAIL000942469.pdf.jpg000942469.pdf.jpgGenerated Thumbnailimage/jpeg1866http://www.lume.ufrgs.br/bitstream/10183/116917/3/000942469.pdf.jpg3268cea842e3dab345e64f10ab66417eMD5310183/1169172021-03-09 04:52:15.792837oai:www.lume.ufrgs.br:10183/116917Repositório de PublicaçõesPUBhttps://lume.ufrgs.br/oai/requestopendoar:2021-03-09T07:52:15Repositório Institucional da UFRGS - Universidade Federal do Rio Grande do Sul (UFRGS)false |
dc.title.pt_BR.fl_str_mv |
New microdeletion and microduplication syndromes : a comprehensive review |
title |
New microdeletion and microduplication syndromes : a comprehensive review |
spellingShingle |
New microdeletion and microduplication syndromes : a comprehensive review Nevado Blanco, Julián Duplicação cromossômica Deleção cromossômica Rearranjo gênico Microdeletion Microduplication Chromosome rearrangement Novel deletions Novel duplications |
title_short |
New microdeletion and microduplication syndromes : a comprehensive review |
title_full |
New microdeletion and microduplication syndromes : a comprehensive review |
title_fullStr |
New microdeletion and microduplication syndromes : a comprehensive review |
title_full_unstemmed |
New microdeletion and microduplication syndromes : a comprehensive review |
title_sort |
New microdeletion and microduplication syndromes : a comprehensive review |
author |
Nevado Blanco, Julián |
author_facet |
Nevado Blanco, Julián Mergener, Rafaella Palomares-Bralo, María Souza, Karen Regina Silva de Vallespín García, Elena Mena, Rocío Martínez-Glez, Víctor Palomino, María Ángeles Santos Simarro, Fernando García Miñaur, Sixto García Santiago, Fé Amalia Mansilla Aparicio, Elena Fernández García-Moya, Luis Torres Pérez Hidalgo, María Luisa de Mariluce Riegel, Mariluce Riegel Lapunzina Badía, Pablo D. |
author_role |
author |
author2 |
Mergener, Rafaella Palomares-Bralo, María Souza, Karen Regina Silva de Vallespín García, Elena Mena, Rocío Martínez-Glez, Víctor Palomino, María Ángeles Santos Simarro, Fernando García Miñaur, Sixto García Santiago, Fé Amalia Mansilla Aparicio, Elena Fernández García-Moya, Luis Torres Pérez Hidalgo, María Luisa de Mariluce Riegel, Mariluce Riegel Lapunzina Badía, Pablo D. |
author2_role |
author author author author author author author author author author author author author author author |
dc.contributor.author.fl_str_mv |
Nevado Blanco, Julián Mergener, Rafaella Palomares-Bralo, María Souza, Karen Regina Silva de Vallespín García, Elena Mena, Rocío Martínez-Glez, Víctor Palomino, María Ángeles Santos Simarro, Fernando García Miñaur, Sixto García Santiago, Fé Amalia Mansilla Aparicio, Elena Fernández García-Moya, Luis Torres Pérez Hidalgo, María Luisa de Mariluce Riegel, Mariluce Riegel Lapunzina Badía, Pablo D. |
dc.subject.por.fl_str_mv |
Duplicação cromossômica Deleção cromossômica Rearranjo gênico |
topic |
Duplicação cromossômica Deleção cromossômica Rearranjo gênico Microdeletion Microduplication Chromosome rearrangement Novel deletions Novel duplications |
dc.subject.eng.fl_str_mv |
Microdeletion Microduplication Chromosome rearrangement Novel deletions Novel duplications |
description |
Several new microdeletion and microduplication syndromes are emerging as disorders that have been proven to cause multisystem pathologies frequently associated with intellectual disability (ID), multiple congenital anomalies (MCA), autistic spectrum disorders (ASD) and other phenotypic findings. In this paper, we review the “new” and emergent microdeletion and microduplication syndromes that have been described and recognized in recent years with the aim of summarizing their main characteristics and chromosomal regions involved. We decided to group them by genomic region and within these groupings have classified them into those that include ID, MCA, ASD or other findings. This review does not intend to be exhaustive but is rather a quick guide to help pediatricians, clinical geneticists, cytogeneticists and/or molecular geneticists. |
publishDate |
2014 |
dc.date.issued.fl_str_mv |
2014 |
dc.date.accessioned.fl_str_mv |
2015-05-22T02:00:28Z |
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info:eu-repo/semantics/article info:eu-repo/semantics/other |
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info:eu-repo/semantics/publishedVersion |
format |
article |
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publishedVersion |
dc.identifier.uri.fl_str_mv |
http://hdl.handle.net/10183/116917 |
dc.identifier.issn.pt_BR.fl_str_mv |
1415-4757 |
dc.identifier.nrb.pt_BR.fl_str_mv |
000942469 |
identifier_str_mv |
1415-4757 000942469 |
url |
http://hdl.handle.net/10183/116917 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.ispartof.pt_BR.fl_str_mv |
Genetics and molecular biology. Ribeirão Preto, SP. Vol. 37, no. 1, suppl. 1 (2014), p. 210-219. |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
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openAccess |
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application/pdf |
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