Congenital diaphragmatic hernia in a patient with tetrasomy 9p

Bibliographic Details
Main Author: Henriques-Coelho, Tiago
Publication Date: 2005
Other Authors: Oliva-Teles, Natália, Fonseca-Silva, M. Luz, Tibboel, Dick, Guimarães, Hercília, Correia-Pinto, Jorge
Format: Article
Language: eng
Source: Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
Download full: https://hdl.handle.net/1822/67899
Summary: 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. Cytogenetic 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 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 9pAdultChromosome DisordersFemaleHernia, DiaphragmaticHumansKaryotypingChromosomes, Human, Pair 9Hernias, Diaphragmatic, CongenitalTetrasomy 9pIsochromosomeCongenital diaphragmatic herniaCiências Médicas::Medicina ClínicaScience & TechnologyTetrasomy 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. Cytogenetic 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 gene locus for enzymes and receptors of the retinoid pathway, this case potentially contributes to retinoid hypothesis in the etiology of congenital diaphragmatic hernia.ElsevierUniversidade do MinhoHenriques-Coelho, TiagoOliva-Teles, NatáliaFonseca-Silva, M. LuzTibboel, DickGuimarães, HercíliaCorreia-Pinto, Jorge2005-102005-10-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttps://hdl.handle.net/1822/67899engHenriques-Coelho, T., Oliva-Teles, N., Fonseca-Silva, M. L., Tibboel, D., et. al. (2005). Congenital diaphragmatic hernia in a patient with tetrasomy 9p. Journal of pediatric surgery, 40(10), e29-e310022-346810.1016/j.jpedsurg.2005.06.03216226972https://www.sciencedirect.com/science/article/pii/S0022346805004975info:eu-repo/semantics/openAccessreponame:Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)instname:FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologiainstacron:RCAAP2025-04-12T04:34:10Zoai:repositorium.sdum.uminho.pt:1822/67899Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireinfo@rcaap.ptopendoar:https://opendoar.ac.uk/repository/71602025-05-28T15:24:47.189245Repositórios Científicos de Acesso Aberto de Portugal (RCAAP) - FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologiafalse
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, Tiago
Adult
Chromosome Disorders
Female
Hernia, Diaphragmatic
Humans
Karyotyping
Chromosomes, Human, Pair 9
Hernias, Diaphragmatic, Congenital
Tetrasomy 9p
Isochromosome
Congenital diaphragmatic hernia
Ciências Médicas::Medicina Clínica
Science & Technology
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, Tiago
author_facet Henriques-Coelho, Tiago
Oliva-Teles, Natália
Fonseca-Silva, M. Luz
Tibboel, Dick
Guimarães, Hercília
Correia-Pinto, Jorge
author_role author
author2 Oliva-Teles, Natália
Fonseca-Silva, M. Luz
Tibboel, Dick
Guimarães, Hercília
Correia-Pinto, Jorge
author2_role author
author
author
author
author
dc.contributor.none.fl_str_mv Universidade do Minho
dc.contributor.author.fl_str_mv Henriques-Coelho, Tiago
Oliva-Teles, Natália
Fonseca-Silva, M. Luz
Tibboel, Dick
Guimarães, Hercília
Correia-Pinto, Jorge
dc.subject.por.fl_str_mv Adult
Chromosome Disorders
Female
Hernia, Diaphragmatic
Humans
Karyotyping
Chromosomes, Human, Pair 9
Hernias, Diaphragmatic, Congenital
Tetrasomy 9p
Isochromosome
Congenital diaphragmatic hernia
Ciências Médicas::Medicina Clínica
Science & Technology
topic Adult
Chromosome Disorders
Female
Hernia, Diaphragmatic
Humans
Karyotyping
Chromosomes, Human, Pair 9
Hernias, Diaphragmatic, Congenital
Tetrasomy 9p
Isochromosome
Congenital diaphragmatic hernia
Ciências Médicas::Medicina Clínica
Science & Technology
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. Cytogenetic 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 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 2005-10
2005-10-01T00:00:00Z
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/1822/67899
url https://hdl.handle.net/1822/67899
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Henriques-Coelho, T., Oliva-Teles, N., Fonseca-Silva, M. L., Tibboel, D., et. al. (2005). Congenital diaphragmatic hernia in a patient with tetrasomy 9p. Journal of pediatric surgery, 40(10), e29-e31
0022-3468
10.1016/j.jpedsurg.2005.06.032
16226972
https://www.sciencedirect.com/science/article/pii/S0022346805004975
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.publisher.none.fl_str_mv Elsevier
publisher.none.fl_str_mv Elsevier
dc.source.none.fl_str_mv reponame:Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
instname:FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologia
instacron:RCAAP
instname_str FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologia
instacron_str RCAAP
institution RCAAP
reponame_str Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
collection Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
repository.name.fl_str_mv Repositórios Científicos de Acesso Aberto de Portugal (RCAAP) - FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologia
repository.mail.fl_str_mv info@rcaap.pt
_version_ 1833595298067251200

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