Molecular Characterization of a Rare Analphoid Supernumerary Marker Chromosome Derived from 7q35 → qter: A Case Report

Detalhes bibliográficos
Autor(a) principal: Marques, B
Data de Publicação: 2016
Outros Autores: Ferreira, C, Brito, F, Pedro, S, Alves, C, Lourenço, T, Amorim, M, Correia, H
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10400.17/2610
Resumo: Analphoid supernumerary marker chromosomes (aSMC) constitute one of the smallest groups of SMC, and are characterized by a centromeric constriction but no detectable alpha-satellite DNA. These marker chromosomes cannot be properly identified by conventional banding techniques alone, and molecular cytogenetic methods are necessary for a detailed characterization. Analphoid SMC derived from chromosome 7 are extremely rare, with only five cases reported so far.
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spelling Molecular Characterization of a Rare Analphoid Supernumerary Marker Chromosome Derived from 7q35 → qter: A Case Report7q duplicationAnalphoid supernumerary marker chromosomeChromosome 7Partial 7q tetrasomyCase ReportHDE GENAnalphoid supernumerary marker chromosomes (aSMC) constitute one of the smallest groups of SMC, and are characterized by a centromeric constriction but no detectable alpha-satellite DNA. These marker chromosomes cannot be properly identified by conventional banding techniques alone, and molecular cytogenetic methods are necessary for a detailed characterization. Analphoid SMC derived from chromosome 7 are extremely rare, with only five cases reported so far.BioMed CentralRepositório do Centro Hospitalar Universitário de Lisboa Central, EPEMarques, BFerreira, CBrito, FPedro, SAlves, CLourenço, TAmorim, MCorreia, H2017-01-11T12:14:43Z20162016-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.17/2610engMol Cytogenet. 2016 Nov 25;9:8710.1186/s13039-016-0295-zinfo: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:RCAAP2023-03-10T09:38:41ZPortal AgregadorONG
dc.title.none.fl_str_mv Molecular Characterization of a Rare Analphoid Supernumerary Marker Chromosome Derived from 7q35 → qter: A Case Report
title Molecular Characterization of a Rare Analphoid Supernumerary Marker Chromosome Derived from 7q35 → qter: A Case Report
spellingShingle Molecular Characterization of a Rare Analphoid Supernumerary Marker Chromosome Derived from 7q35 → qter: A Case Report
Marques, B
7q duplication
Analphoid supernumerary marker chromosome
Chromosome 7
Partial 7q tetrasomy
Case Report
HDE GEN
title_short Molecular Characterization of a Rare Analphoid Supernumerary Marker Chromosome Derived from 7q35 → qter: A Case Report
title_full Molecular Characterization of a Rare Analphoid Supernumerary Marker Chromosome Derived from 7q35 → qter: A Case Report
title_fullStr Molecular Characterization of a Rare Analphoid Supernumerary Marker Chromosome Derived from 7q35 → qter: A Case Report
title_full_unstemmed Molecular Characterization of a Rare Analphoid Supernumerary Marker Chromosome Derived from 7q35 → qter: A Case Report
title_sort Molecular Characterization of a Rare Analphoid Supernumerary Marker Chromosome Derived from 7q35 → qter: A Case Report
author Marques, B
author_facet Marques, B
Ferreira, C
Brito, F
Pedro, S
Alves, C
Lourenço, T
Amorim, M
Correia, H
author_role author
author2 Ferreira, C
Brito, F
Pedro, S
Alves, C
Lourenço, T
Amorim, M
Correia, H
author2_role author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Repositório do Centro Hospitalar Universitário de Lisboa Central, EPE
dc.contributor.author.fl_str_mv Marques, B
Ferreira, C
Brito, F
Pedro, S
Alves, C
Lourenço, T
Amorim, M
Correia, H
dc.subject.por.fl_str_mv 7q duplication
Analphoid supernumerary marker chromosome
Chromosome 7
Partial 7q tetrasomy
Case Report
HDE GEN
topic 7q duplication
Analphoid supernumerary marker chromosome
Chromosome 7
Partial 7q tetrasomy
Case Report
HDE GEN
description Analphoid supernumerary marker chromosomes (aSMC) constitute one of the smallest groups of SMC, and are characterized by a centromeric constriction but no detectable alpha-satellite DNA. These marker chromosomes cannot be properly identified by conventional banding techniques alone, and molecular cytogenetic methods are necessary for a detailed characterization. Analphoid SMC derived from chromosome 7 are extremely rare, with only five cases reported so far.
publishDate 2016
dc.date.none.fl_str_mv 2016
2016-01-01T00:00:00Z
2017-01-11T12:14:43Z
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 http://hdl.handle.net/10400.17/2610
url http://hdl.handle.net/10400.17/2610
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Mol Cytogenet. 2016 Nov 25;9:87
10.1186/s13039-016-0295-z
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 BioMed Central
publisher.none.fl_str_mv BioMed Central
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron:RCAAP
instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron_str RCAAP
institution RCAAP
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
repository.mail.fl_str_mv
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