A Multicentric Brazilian Investigative Study of Copy Number Variations in Patients with Congenital Anomalies and Intellectual Disability
Autor(a) principal: | |
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Data de Publicação: | 2018 |
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/10316/108053 https://doi.org/10.1038/s41598-018-31754-2 |
Resumo: | Genomic imbalances are the most common cause of congenital anomalies (CA) and intellectual disability (ID). The aims of this study were to identify copy number variations (CNVs) in 416 patients with CA and ID from 5 different genetics centers within 4 different states by using the Multiplex Ligation-dependent Probe Amplification (MLPA) technique and to apply the chromosomal microarray (CMA) methodology in selected cases. The samples were analyzed by MLPA kits P064, P036, P070 and P250. Positive results were found in 97/416 (23.3%) patients. CMA was applied in 14 selected cases. In 6/14 (42.85%) patients, CMA detected other copy number variations not detected by the MLPA studies. Although CMA is indispensable for genotype refinement, the technique is still unfeasible in some countries as a routine analysis due to economic and technical limitations. In these cases, clinical evaluation followed by karyotyping and MLPA analysis is a helpful and affordable solution for diagnostic purposes. |
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A Multicentric Brazilian Investigative Study of Copy Number Variations in Patients with Congenital Anomalies and Intellectual DisabilityAdolescentAdultBrazilChildChild, PreschoolCongenital AbnormalitiesFemaleGene DosageHumansInfantIntellectual DisabilityMaleMultiplex Polymerase Chain ReactionGenomic imbalances are the most common cause of congenital anomalies (CA) and intellectual disability (ID). The aims of this study were to identify copy number variations (CNVs) in 416 patients with CA and ID from 5 different genetics centers within 4 different states by using the Multiplex Ligation-dependent Probe Amplification (MLPA) technique and to apply the chromosomal microarray (CMA) methodology in selected cases. The samples were analyzed by MLPA kits P064, P036, P070 and P250. Positive results were found in 97/416 (23.3%) patients. CMA was applied in 14 selected cases. In 6/14 (42.85%) patients, CMA detected other copy number variations not detected by the MLPA studies. Although CMA is indispensable for genotype refinement, the technique is still unfeasible in some countries as a routine analysis due to economic and technical limitations. In these cases, clinical evaluation followed by karyotyping and MLPA analysis is a helpful and affordable solution for diagnostic purposes.Springer Nature2018-09-06info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articlehttp://hdl.handle.net/10316/108053http://hdl.handle.net/10316/108053https://doi.org/10.1038/s41598-018-31754-2eng2045-2322Ceroni, J. R .M.Dutra, R. L.Honjo, R. S.Llerena, J. C.Acosta, A. XMedeiros, P. F. V.Galera, M. F.Zanardo, É APiazzon, F. B.Dias, A. T.Novo-Filho, G. M.Montenegro, M. M.Madia, F A RBertola, D RMelo, J. B.Kulikowski, L. D.Kim, C. A.info: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:RCAAP2023-08-07T15:27:11Zoai:estudogeral.uc.pt:10316/108053Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T21:24:19.489512Repositório 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 |
A Multicentric Brazilian Investigative Study of Copy Number Variations in Patients with Congenital Anomalies and Intellectual Disability |
title |
A Multicentric Brazilian Investigative Study of Copy Number Variations in Patients with Congenital Anomalies and Intellectual Disability |
spellingShingle |
A Multicentric Brazilian Investigative Study of Copy Number Variations in Patients with Congenital Anomalies and Intellectual Disability Ceroni, J. R .M. Adolescent Adult Brazil Child Child, Preschool Congenital Abnormalities Female Gene Dosage Humans Infant Intellectual Disability Male Multiplex Polymerase Chain Reaction |
title_short |
A Multicentric Brazilian Investigative Study of Copy Number Variations in Patients with Congenital Anomalies and Intellectual Disability |
title_full |
A Multicentric Brazilian Investigative Study of Copy Number Variations in Patients with Congenital Anomalies and Intellectual Disability |
title_fullStr |
A Multicentric Brazilian Investigative Study of Copy Number Variations in Patients with Congenital Anomalies and Intellectual Disability |
title_full_unstemmed |
A Multicentric Brazilian Investigative Study of Copy Number Variations in Patients with Congenital Anomalies and Intellectual Disability |
title_sort |
A Multicentric Brazilian Investigative Study of Copy Number Variations in Patients with Congenital Anomalies and Intellectual Disability |
author |
Ceroni, J. R .M. |
author_facet |
Ceroni, J. R .M. Dutra, R. L. Honjo, R. S. Llerena, J. C. Acosta, A. X Medeiros, P. F. V. Galera, M. F. Zanardo, É A Piazzon, F. B. Dias, A. T. Novo-Filho, G. M. Montenegro, M. M. Madia, F A R Bertola, D R Melo, J. B. Kulikowski, L. D. Kim, C. A. |
author_role |
author |
author2 |
Dutra, R. L. Honjo, R. S. Llerena, J. C. Acosta, A. X Medeiros, P. F. V. Galera, M. F. Zanardo, É A Piazzon, F. B. Dias, A. T. Novo-Filho, G. M. Montenegro, M. M. Madia, F A R Bertola, D R Melo, J. B. Kulikowski, L. D. Kim, C. A. |
author2_role |
author author author author author author author author author author author author author author author author |
dc.contributor.author.fl_str_mv |
Ceroni, J. R .M. Dutra, R. L. Honjo, R. S. Llerena, J. C. Acosta, A. X Medeiros, P. F. V. Galera, M. F. Zanardo, É A Piazzon, F. B. Dias, A. T. Novo-Filho, G. M. Montenegro, M. M. Madia, F A R Bertola, D R Melo, J. B. Kulikowski, L. D. Kim, C. A. |
dc.subject.por.fl_str_mv |
Adolescent Adult Brazil Child Child, Preschool Congenital Abnormalities Female Gene Dosage Humans Infant Intellectual Disability Male Multiplex Polymerase Chain Reaction |
topic |
Adolescent Adult Brazil Child Child, Preschool Congenital Abnormalities Female Gene Dosage Humans Infant Intellectual Disability Male Multiplex Polymerase Chain Reaction |
description |
Genomic imbalances are the most common cause of congenital anomalies (CA) and intellectual disability (ID). The aims of this study were to identify copy number variations (CNVs) in 416 patients with CA and ID from 5 different genetics centers within 4 different states by using the Multiplex Ligation-dependent Probe Amplification (MLPA) technique and to apply the chromosomal microarray (CMA) methodology in selected cases. The samples were analyzed by MLPA kits P064, P036, P070 and P250. Positive results were found in 97/416 (23.3%) patients. CMA was applied in 14 selected cases. In 6/14 (42.85%) patients, CMA detected other copy number variations not detected by the MLPA studies. Although CMA is indispensable for genotype refinement, the technique is still unfeasible in some countries as a routine analysis due to economic and technical limitations. In these cases, clinical evaluation followed by karyotyping and MLPA analysis is a helpful and affordable solution for diagnostic purposes. |
publishDate |
2018 |
dc.date.none.fl_str_mv |
2018-09-06 |
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/10316/108053 http://hdl.handle.net/10316/108053 https://doi.org/10.1038/s41598-018-31754-2 |
url |
http://hdl.handle.net/10316/108053 https://doi.org/10.1038/s41598-018-31754-2 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
2045-2322 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.publisher.none.fl_str_mv |
Springer Nature |
publisher.none.fl_str_mv |
Springer Nature |
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 |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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1799134128489103360 |