Autism spectrum disorder in a patient with genetic mosaicism: case report
Autor(a) principal: | |
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Data de Publicação: | 2017 |
Outros Autores: | , , , |
Tipo de documento: | Artigo |
Idioma: | por |
Título da fonte: | Debates em Psiquiatria (Online) |
Texto Completo: | https://revistardp.org.br/revista/article/view/80 |
Resumo: | The present report describes the case of a patient with autism spectrum disorder (ASD) associated with 46XY mosaicism, a rare and scarcely studied condition. The authors describe patient evolution and discuss the literature on chromosomal abnormalities associated with ASD. They conclude emphasizing that clinical evaluation of each case of ASD should cover neurological, psychiatric, and genetic aspects. |
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Debates em Psiquiatria (Online) |
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Autism spectrum disorder in a patient with genetic mosaicism: case reportTranstorno do espectro autista em paciente com mosaicismo genético: relato de casoAutismomosaicismocromossomosAutismmosaicismchromosomesThe present report describes the case of a patient with autism spectrum disorder (ASD) associated with 46XY mosaicism, a rare and scarcely studied condition. The authors describe patient evolution and discuss the literature on chromosomal abnormalities associated with ASD. They conclude emphasizing that clinical evaluation of each case of ASD should cover neurological, psychiatric, and genetic aspects.O presente relato descreve o caso de um paciente com transtorno do espectro autista (TEA) associado ao mosaicismo genético 46XY, uma condição rara e pouco relatada. Os autores descrevem a evolução do paciente e discutem a literatura sobre anomalias cromossômicas associadas ao TEA. Conclui-se enfatizando que a avaliação clínica de cada caso de TEA deveria contemplar sempre aspectos neurológicos, psiquiátricos e genéticos.Associação Brasileira de Psiquiatria2017-10-31info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionAvaliado pelos paresapplication/pdfhttps://revistardp.org.br/revista/article/view/8010.25118/2236-918X-7-5-5Debates in Psychiatry; Vol. 7 No. 5 (2017); 38-41Debates em Psiquiatria; Vol. 7 Núm. 5 (2017); 38-41Debates em Psiquiatria; v. 7 n. 5 (2017); 38-412763-90372236-918Xreponame:Debates em Psiquiatria (Online)instname:Associação Brasileira de Psiquiatria (ABP)instacron:ABPporhttps://revistardp.org.br/revista/article/view/80/64https://creativecommons.org/licenses/by-nc/4.0info:eu-repo/semantics/openAccessTrillo, Ana Sofia PontesArruda, Mariana GianolaJubara, Camila Fernandes BonifácioCaldas, Isabela MosconiPalma, Sonia Maria Motta2023-06-08T00:29:09Zoai:ojs.emnuvens.com.br:article/80Revistahttps://revistardp.org.br/revista/oaiPUBhttps://revistardp.org.br/revista/oairdp@abp.org.br2763-90372236-918Xopendoar:2023-06-08T00:29:09Debates em Psiquiatria (Online) - Associação Brasileira de Psiquiatria (ABP)false |
dc.title.none.fl_str_mv |
Autism spectrum disorder in a patient with genetic mosaicism: case report Transtorno do espectro autista em paciente com mosaicismo genético: relato de caso |
title |
Autism spectrum disorder in a patient with genetic mosaicism: case report |
spellingShingle |
Autism spectrum disorder in a patient with genetic mosaicism: case report Trillo, Ana Sofia Pontes Autismo mosaicismo cromossomos Autism mosaicism chromosomes |
title_short |
Autism spectrum disorder in a patient with genetic mosaicism: case report |
title_full |
Autism spectrum disorder in a patient with genetic mosaicism: case report |
title_fullStr |
Autism spectrum disorder in a patient with genetic mosaicism: case report |
title_full_unstemmed |
Autism spectrum disorder in a patient with genetic mosaicism: case report |
title_sort |
Autism spectrum disorder in a patient with genetic mosaicism: case report |
author |
Trillo, Ana Sofia Pontes |
author_facet |
Trillo, Ana Sofia Pontes Arruda, Mariana Gianola Jubara, Camila Fernandes Bonifácio Caldas, Isabela Mosconi Palma, Sonia Maria Motta |
author_role |
author |
author2 |
Arruda, Mariana Gianola Jubara, Camila Fernandes Bonifácio Caldas, Isabela Mosconi Palma, Sonia Maria Motta |
author2_role |
author author author author |
dc.contributor.author.fl_str_mv |
Trillo, Ana Sofia Pontes Arruda, Mariana Gianola Jubara, Camila Fernandes Bonifácio Caldas, Isabela Mosconi Palma, Sonia Maria Motta |
dc.subject.por.fl_str_mv |
Autismo mosaicismo cromossomos Autism mosaicism chromosomes |
topic |
Autismo mosaicismo cromossomos Autism mosaicism chromosomes |
description |
The present report describes the case of a patient with autism spectrum disorder (ASD) associated with 46XY mosaicism, a rare and scarcely studied condition. The authors describe patient evolution and discuss the literature on chromosomal abnormalities associated with ASD. They conclude emphasizing that clinical evaluation of each case of ASD should cover neurological, psychiatric, and genetic aspects. |
publishDate |
2017 |
dc.date.none.fl_str_mv |
2017-10-31 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion Avaliado pelos pares |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
https://revistardp.org.br/revista/article/view/80 10.25118/2236-918X-7-5-5 |
url |
https://revistardp.org.br/revista/article/view/80 |
identifier_str_mv |
10.25118/2236-918X-7-5-5 |
dc.language.iso.fl_str_mv |
por |
language |
por |
dc.relation.none.fl_str_mv |
https://revistardp.org.br/revista/article/view/80/64 |
dc.rights.driver.fl_str_mv |
https://creativecommons.org/licenses/by-nc/4.0 info:eu-repo/semantics/openAccess |
rights_invalid_str_mv |
https://creativecommons.org/licenses/by-nc/4.0 |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.publisher.none.fl_str_mv |
Associação Brasileira de Psiquiatria |
publisher.none.fl_str_mv |
Associação Brasileira de Psiquiatria |
dc.source.none.fl_str_mv |
Debates in Psychiatry; Vol. 7 No. 5 (2017); 38-41 Debates em Psiquiatria; Vol. 7 Núm. 5 (2017); 38-41 Debates em Psiquiatria; v. 7 n. 5 (2017); 38-41 2763-9037 2236-918X reponame:Debates em Psiquiatria (Online) instname:Associação Brasileira de Psiquiatria (ABP) instacron:ABP |
instname_str |
Associação Brasileira de Psiquiatria (ABP) |
instacron_str |
ABP |
institution |
ABP |
reponame_str |
Debates em Psiquiatria (Online) |
collection |
Debates em Psiquiatria (Online) |
repository.name.fl_str_mv |
Debates em Psiquiatria (Online) - Associação Brasileira de Psiquiatria (ABP) |
repository.mail.fl_str_mv |
rdp@abp.org.br |
_version_ |
1796798364721872896 |