Congenital diaphragmatic hernia in a patient with tetrasomy 9p

Detalhes bibliográficos
Autor(a) principal: Henriques-Coelho, T
Data de Publicação: 2005
Outros Autores: Olivia-Teles, N, Fonseca-Silva, ML, Tibboel, D, Guimarães, H, Correia-Pinto, J
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: https://hdl.handle.net/10216/67265
Resumo: Tetrasomy of the short arm of chromosome 9 constitutes a rare condition resulting, in a well clinically recognized syndrome. in our case, in addition to the characteristic phenotype at birth, the existence of a hernia-type Bochdalek diaphragmatic defect was found. Cylogenetic analysis revealed a nonmosaic case of an isochromosome of the entire short arm of chromosome 9 with no involvement of the heterochromatic region of the long arm: 47, XX, +i (9p). Because chromosome 9 contains several,I gene locus for enzymes and receptors of the retinoid pathway, this case potentially contributes to retinoid hypothesis in the etiology of congenital diaphragmatic hernia.
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spelling Congenital diaphragmatic hernia in a patient with tetrasomy 9pCiências médicas e da saúdeMedical and Health sciencesTetrasomy of the short arm of chromosome 9 constitutes a rare condition resulting, in a well clinically recognized syndrome. in our case, in addition to the characteristic phenotype at birth, the existence of a hernia-type Bochdalek diaphragmatic defect was found. Cylogenetic analysis revealed a nonmosaic case of an isochromosome of the entire short arm of chromosome 9 with no involvement of the heterochromatic region of the long arm: 47, XX, +i (9p). Because chromosome 9 contains several,I gene locus for enzymes and receptors of the retinoid pathway, this case potentially contributes to retinoid hypothesis in the etiology of congenital diaphragmatic hernia.20052005-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttps://hdl.handle.net/10216/67265eng0022-346810.1016/j.jpedsurg.2005.06.032Henriques-Coelho, TOlivia-Teles, NFonseca-Silva, MLTibboel, DGuimarães, HCorreia-Pinto, Jinfo:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-11-29T12:59:42Zoai:repositorio-aberto.up.pt:10216/67265Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T23:31:16.606762Repositório 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 Congenital diaphragmatic hernia in a patient with tetrasomy 9p
title Congenital diaphragmatic hernia in a patient with tetrasomy 9p
spellingShingle Congenital diaphragmatic hernia in a patient with tetrasomy 9p
Henriques-Coelho, T
Ciências médicas e da saúde
Medical and Health sciences
title_short Congenital diaphragmatic hernia in a patient with tetrasomy 9p
title_full Congenital diaphragmatic hernia in a patient with tetrasomy 9p
title_fullStr Congenital diaphragmatic hernia in a patient with tetrasomy 9p
title_full_unstemmed Congenital diaphragmatic hernia in a patient with tetrasomy 9p
title_sort Congenital diaphragmatic hernia in a patient with tetrasomy 9p
author Henriques-Coelho, T
author_facet Henriques-Coelho, T
Olivia-Teles, N
Fonseca-Silva, ML
Tibboel, D
Guimarães, H
Correia-Pinto, J
author_role author
author2 Olivia-Teles, N
Fonseca-Silva, ML
Tibboel, D
Guimarães, H
Correia-Pinto, J
author2_role author
author
author
author
author
dc.contributor.author.fl_str_mv Henriques-Coelho, T
Olivia-Teles, N
Fonseca-Silva, ML
Tibboel, D
Guimarães, H
Correia-Pinto, J
dc.subject.por.fl_str_mv Ciências médicas e da saúde
Medical and Health sciences
topic Ciências médicas e da saúde
Medical and Health sciences
description Tetrasomy of the short arm of chromosome 9 constitutes a rare condition resulting, in a well clinically recognized syndrome. in our case, in addition to the characteristic phenotype at birth, the existence of a hernia-type Bochdalek diaphragmatic defect was found. Cylogenetic analysis revealed a nonmosaic case of an isochromosome of the entire short arm of chromosome 9 with no involvement of the heterochromatic region of the long arm: 47, XX, +i (9p). Because chromosome 9 contains several,I gene locus for enzymes and receptors of the retinoid pathway, this case potentially contributes to retinoid hypothesis in the etiology of congenital diaphragmatic hernia.
publishDate 2005
dc.date.none.fl_str_mv 2005
2005-01-01T00:00:00Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv https://hdl.handle.net/10216/67265
url https://hdl.handle.net/10216/67265
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 0022-3468
10.1016/j.jpedsurg.2005.06.032
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
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instacron:RCAAP
instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
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reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
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