Autism spectrum disorder in a patient with genetic mosaicism: case report

Detalhes bibliográficos
Autor(a) principal: Trillo, Ana Sofia Pontes
Data de Publicação: 2017
Outros Autores: Arruda, Mariana Gianola, Jubara, Camila Fernandes Bonifácio, Caldas, Isabela Mosconi, Palma, Sonia Maria Motta
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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spelling 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
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