Trisomy 20 mosaicism: a subtle phenotype

Detalhes bibliográficos
Autor(a) principal: Medeiros,Inês
Data de Publicação: 2018
Outros Autores: Faria,Catarina, Carvalho,Fábia, Rocha,Miguel Gonçalves, Silva,Helena
Tipo de documento: Relatório
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542018000300006
Resumo: Introduction: Trisomy 20 mosaicism is one of the most common cytogenetic abnormalities found in prenatal diagnosis. The outcome of these pregnancies is normal in most of the reported cases, but clinical implications of diagnosis and prognosis in a long term basis are not clear. Case report: The authors present a case of trisomy 20 mosaicism, with no prenatal diagnosis, followed-up for a period of 13 years, aiming to demonstrate the existence of a subtle phenotype, which represents a challenge in diagnosis. Discussion/Conclusion: No specific phenotype has been associated with the cytogenetic findings but certain features, although subtle, appear to be consistent.
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spelling Trisomy 20 mosaicism: a subtle phenotypeMosaicismphenotypetrisomy 20Introduction: Trisomy 20 mosaicism is one of the most common cytogenetic abnormalities found in prenatal diagnosis. The outcome of these pregnancies is normal in most of the reported cases, but clinical implications of diagnosis and prognosis in a long term basis are not clear. Case report: The authors present a case of trisomy 20 mosaicism, with no prenatal diagnosis, followed-up for a period of 13 years, aiming to demonstrate the existence of a subtle phenotype, which represents a challenge in diagnosis. Discussion/Conclusion: No specific phenotype has been associated with the cytogenetic findings but certain features, although subtle, appear to be consistent.Centro Hospitalar do Porto2018-09-01info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/reporttext/htmlhttp://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542018000300006Nascer e Crescer v.27 n.3 2018reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAPenghttp://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542018000300006Medeiros,InêsFaria,CatarinaCarvalho,FábiaRocha,Miguel GonçalvesSilva,Helenainfo:eu-repo/semantics/openAccess2024-02-06T17:06:20Zoai:scielo:S0872-07542018000300006Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-20T02:19:44.929778Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv Trisomy 20 mosaicism: a subtle phenotype
title Trisomy 20 mosaicism: a subtle phenotype
spellingShingle Trisomy 20 mosaicism: a subtle phenotype
Medeiros,Inês
Mosaicism
phenotype
trisomy 20
title_short Trisomy 20 mosaicism: a subtle phenotype
title_full Trisomy 20 mosaicism: a subtle phenotype
title_fullStr Trisomy 20 mosaicism: a subtle phenotype
title_full_unstemmed Trisomy 20 mosaicism: a subtle phenotype
title_sort Trisomy 20 mosaicism: a subtle phenotype
author Medeiros,Inês
author_facet Medeiros,Inês
Faria,Catarina
Carvalho,Fábia
Rocha,Miguel Gonçalves
Silva,Helena
author_role author
author2 Faria,Catarina
Carvalho,Fábia
Rocha,Miguel Gonçalves
Silva,Helena
author2_role author
author
author
author
dc.contributor.author.fl_str_mv Medeiros,Inês
Faria,Catarina
Carvalho,Fábia
Rocha,Miguel Gonçalves
Silva,Helena
dc.subject.por.fl_str_mv Mosaicism
phenotype
trisomy 20
topic Mosaicism
phenotype
trisomy 20
description Introduction: Trisomy 20 mosaicism is one of the most common cytogenetic abnormalities found in prenatal diagnosis. The outcome of these pregnancies is normal in most of the reported cases, but clinical implications of diagnosis and prognosis in a long term basis are not clear. Case report: The authors present a case of trisomy 20 mosaicism, with no prenatal diagnosis, followed-up for a period of 13 years, aiming to demonstrate the existence of a subtle phenotype, which represents a challenge in diagnosis. Discussion/Conclusion: No specific phenotype has been associated with the cytogenetic findings but certain features, although subtle, appear to be consistent.
publishDate 2018
dc.date.none.fl_str_mv 2018-09-01
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dc.identifier.uri.fl_str_mv http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542018000300006
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dc.language.iso.fl_str_mv eng
language eng
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dc.publisher.none.fl_str_mv Centro Hospitalar do Porto
publisher.none.fl_str_mv Centro Hospitalar do Porto
dc.source.none.fl_str_mv Nascer e Crescer v.27 n.3 2018
reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
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collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
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