Molecular characterization of a rare analphoid supernumerary marker chromosome derived from 7q35 → qter: a case report
Autor(a) principal: | |
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Data de Publicação: | 2016 |
Outros Autores: | , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | http://hdl.handle.net/10400.18/4367 |
Resumo: | Background: 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. Case presentation: In this work we report an aSMC involving the terminal long arm of chromosome 7 in a 10-year-old boy with multiple dysmorphic features and severe development delay. Cytogenetic analysis revealed a mosaic karyotype with the presence of an extra SMC, de novo, in 20% of lymphocytes and 73% of fibroblast cells. Next, we performed FISH analysis with multiple DNA probes and cCGH analysis. This identified the origin of the SMC as an analphoid marker resulting of invdup rearrangement of 7q35-qter region. Affimetrix CytoScan HD array analysis redefined the aSMC as a 15.42 Mb gain at 7q35-q36.3 (minimum tetraplicated region-chr7: 143,594,973-159,119,707; GRCh37/hg19) of maternal origin that encloses 67 OMIM genes, 16 of which associated to disease. Uniparental disomy of chromosome 7 (UPD 7) has been excluded. Conclusions: We report the first patient with an aSMC(7) derived from the terminal 7q region who has been molecularly and clinically full characterized. The use of SNParray in the characterization of SMC reveals to be a powerful tool, giving information not only about copy number variation but also about loss-of-heterozygosity and parental origin. We conclude that an integrated genome-wide copy number variation analysis, if possible associated to FISH and gene expression studies, could facilitate in the future the difficult task of establishing accurate genotype-phenotype correlations and help to improve genetic counselling. |
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Molecular characterization of a rare analphoid supernumerary marker chromosome derived from 7q35 → qter: a case reportChromosome 7Analphoid Supernumerary Marker ChromosomeNeocentromerePartial 7q Tetrasomy7q DuplicationDoenças GenéticasBackground: 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. Case presentation: In this work we report an aSMC involving the terminal long arm of chromosome 7 in a 10-year-old boy with multiple dysmorphic features and severe development delay. Cytogenetic analysis revealed a mosaic karyotype with the presence of an extra SMC, de novo, in 20% of lymphocytes and 73% of fibroblast cells. Next, we performed FISH analysis with multiple DNA probes and cCGH analysis. This identified the origin of the SMC as an analphoid marker resulting of invdup rearrangement of 7q35-qter region. Affimetrix CytoScan HD array analysis redefined the aSMC as a 15.42 Mb gain at 7q35-q36.3 (minimum tetraplicated region-chr7: 143,594,973-159,119,707; GRCh37/hg19) of maternal origin that encloses 67 OMIM genes, 16 of which associated to disease. Uniparental disomy of chromosome 7 (UPD 7) has been excluded. Conclusions: We report the first patient with an aSMC(7) derived from the terminal 7q region who has been molecularly and clinically full characterized. The use of SNParray in the characterization of SMC reveals to be a powerful tool, giving information not only about copy number variation but also about loss-of-heterozygosity and parental origin. We conclude that an integrated genome-wide copy number variation analysis, if possible associated to FISH and gene expression studies, could facilitate in the future the difficult task of establishing accurate genotype-phenotype correlations and help to improve genetic counselling.BioMed CentralRepositório Científico do Instituto Nacional de SaúdeMarques, BárbaraFerreira, CristinaBrito, FilomenaPedro, SóniaAlves, CristinaLourenço, TeresaAmorim, MartaCorreia, Hildeberto2017-02-23T13:56:03Z2016-11-252016-11-25T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.18/4367engMol Cytogenet. 2016 Nov 25;9:87. eCollection 2016. doi:10.1186/s13039-016-0295-z1755-816610.1186/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:RCAAP2023-07-20T15:40:12ZPortal 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, Bárbara Chromosome 7 Analphoid Supernumerary Marker Chromosome Neocentromere Partial 7q Tetrasomy 7q Duplication Doenças Genéticas |
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, Bárbara |
author_facet |
Marques, Bárbara Ferreira, Cristina Brito, Filomena Pedro, Sónia Alves, Cristina Lourenço, Teresa Amorim, Marta Correia, Hildeberto |
author_role |
author |
author2 |
Ferreira, Cristina Brito, Filomena Pedro, Sónia Alves, Cristina Lourenço, Teresa Amorim, Marta Correia, Hildeberto |
author2_role |
author author author author author author author |
dc.contributor.none.fl_str_mv |
Repositório Científico do Instituto Nacional de Saúde |
dc.contributor.author.fl_str_mv |
Marques, Bárbara Ferreira, Cristina Brito, Filomena Pedro, Sónia Alves, Cristina Lourenço, Teresa Amorim, Marta Correia, Hildeberto |
dc.subject.por.fl_str_mv |
Chromosome 7 Analphoid Supernumerary Marker Chromosome Neocentromere Partial 7q Tetrasomy 7q Duplication Doenças Genéticas |
topic |
Chromosome 7 Analphoid Supernumerary Marker Chromosome Neocentromere Partial 7q Tetrasomy 7q Duplication Doenças Genéticas |
description |
Background: 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. Case presentation: In this work we report an aSMC involving the terminal long arm of chromosome 7 in a 10-year-old boy with multiple dysmorphic features and severe development delay. Cytogenetic analysis revealed a mosaic karyotype with the presence of an extra SMC, de novo, in 20% of lymphocytes and 73% of fibroblast cells. Next, we performed FISH analysis with multiple DNA probes and cCGH analysis. This identified the origin of the SMC as an analphoid marker resulting of invdup rearrangement of 7q35-qter region. Affimetrix CytoScan HD array analysis redefined the aSMC as a 15.42 Mb gain at 7q35-q36.3 (minimum tetraplicated region-chr7: 143,594,973-159,119,707; GRCh37/hg19) of maternal origin that encloses 67 OMIM genes, 16 of which associated to disease. Uniparental disomy of chromosome 7 (UPD 7) has been excluded. Conclusions: We report the first patient with an aSMC(7) derived from the terminal 7q region who has been molecularly and clinically full characterized. The use of SNParray in the characterization of SMC reveals to be a powerful tool, giving information not only about copy number variation but also about loss-of-heterozygosity and parental origin. We conclude that an integrated genome-wide copy number variation analysis, if possible associated to FISH and gene expression studies, could facilitate in the future the difficult task of establishing accurate genotype-phenotype correlations and help to improve genetic counselling. |
publishDate |
2016 |
dc.date.none.fl_str_mv |
2016-11-25 2016-11-25T00:00:00Z 2017-02-23T13:56:03Z |
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/10400.18/4367 |
url |
http://hdl.handle.net/10400.18/4367 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
Mol Cytogenet. 2016 Nov 25;9:87. eCollection 2016. doi:10.1186/s13039-016-0295-z 1755-8166 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 |
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Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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RCAAP |
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RCAAP |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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