FREQUENCY OF CHROMOSOME ABNORMALITIES IN PEOPLE ATTENDED IN A LABORATORY OF MOLECULAR ANALYSES IN MARINGÁ PR BRAZIL

Detalhes bibliográficos
Autor(a) principal: de Almeida, Ayla Carolina
Data de Publicação: 2013
Outros Autores: Macente, Sara, Brajão de Oliveira, Karen
Tipo de documento: Artigo
Idioma: por
Título da fonte: Saúde e Pesquisa (Online)
Texto Completo: https://periodicos.unicesumar.edu.br/index.php/saudpesq/article/view/2586
Resumo: Chromosome abnormalities are currently the most frequent genetic diseases and responsible for high death rates and spontaneous abortions. Current analysis determines the frequency of chromosome abnormalities in all people attended at the laboratory of molecular analyses in Maringá PR Brazil between July 2011 and June 2012 who underwent tests due to a medical suspicion of changes and to evaluate the need to have genetic counseling after the diagnosis. Results showed that out of the 202 patients attended to, 32 (15.8%) had signs of changes, with 23 (71.8%) presenting numerical changes and 9 (28.1%) structural alterations. Mosaicism was also revealed in 13 (6.43%) patients. Results show that cytogenetic diagnosis is highly important for the identification of changes and genetic counseling of the patient and relatives.
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spelling FREQUENCY OF CHROMOSOME ABNORMALITIES IN PEOPLE ATTENDED IN A LABORATORY OF MOLECULAR ANALYSES IN MARINGÁ PR BRAZILFrequência de Anormalidades Cromossômicas em Indivíduos Atendidos em um Laboratório de Análises Moleculares em Maringá - PRGenetic CounselingChromosome AlterationsCytogeneticsMother´s Age.Aconselhamento GenéticoAlterações CromossômicasCitogenéticaIdade Materna.Chromosome abnormalities are currently the most frequent genetic diseases and responsible for high death rates and spontaneous abortions. Current analysis determines the frequency of chromosome abnormalities in all people attended at the laboratory of molecular analyses in Maringá PR Brazil between July 2011 and June 2012 who underwent tests due to a medical suspicion of changes and to evaluate the need to have genetic counseling after the diagnosis. Results showed that out of the 202 patients attended to, 32 (15.8%) had signs of changes, with 23 (71.8%) presenting numerical changes and 9 (28.1%) structural alterations. Mosaicism was also revealed in 13 (6.43%) patients. Results show that cytogenetic diagnosis is highly important for the identification of changes and genetic counseling of the patient and relatives.As anormalidades cromossômicas são hoje as doenças genéticas mais frequentes e responsáveis por alta porcentagem de morte e abortos espontâneos. Desta forma o objetivo deste estudo foi determinar a frequência de anormalidades cromossômicas em todos os indivíduos atendidos em um laboratório de análises moleculares em Maringá - PR, durante o período de julho de 2011 a junho de 2012, que foram dirigidos para realização dos exames a partir de suspeita médica para alguma alteração; e ainda avaliar a necessidade de encaminhamento para aconselhamento genético, após o diagnóstico. Os resultados mostraram que, de 202 pacientes atendidos, 32 (15,8%) apresentaram algum tipo de alteração. Deste total, 23 (71,8%) apresentaram alterações numéricas e 9 (28,1%) apresentaram alterações estruturais. O mosaicismo também foi encontrado em 13 (6,43%) dos pacientes atendidos. Conclui-se que é de extrema importância o diagnóstico citogenético para identificação das alterações e o encaminhamento dos pacientes e sua família para o aconselhamento genético.Universidade Cesumar - UniCesumar2013-11-27info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionAvaliado por ParesPesquisa Empirica de Campoapplication/pdfhttps://periodicos.unicesumar.edu.br/index.php/saudpesq/article/view/2586Saúde e Pesquisa; Vol 6 No 3 (2013): set./dez.Saúde e Pesquisa; v. 6 n. 3 (2013): set./dez.2176-9206reponame:Saúde e Pesquisa (Online)instname:Cesumar Diretoria de Pesquisainstacron:CESUMARporhttps://periodicos.unicesumar.edu.br/index.php/saudpesq/article/view/2586/2154de Almeida, Ayla CarolinaMacente, SaraBrajão de Oliveira, Kareninfo:eu-repo/semantics/openAccess2020-09-04T12:34:29Zoai:ojs.pkp.sfu.ca:article/2586Revistahttps://periodicos.unicesumar.edu.br/index.php/saudpesqPUBhttps://periodicos.unicesumar.edu.br/index.php/saudpesq/oainaep@cesumar.br2176-92061983-1870opendoar:2020-09-04T12:34:29Saúde e Pesquisa (Online) - Cesumar Diretoria de Pesquisafalse
dc.title.none.fl_str_mv FREQUENCY OF CHROMOSOME ABNORMALITIES IN PEOPLE ATTENDED IN A LABORATORY OF MOLECULAR ANALYSES IN MARINGÁ PR BRAZIL
Frequência de Anormalidades Cromossômicas em Indivíduos Atendidos em um Laboratório de Análises Moleculares em Maringá - PR
title FREQUENCY OF CHROMOSOME ABNORMALITIES IN PEOPLE ATTENDED IN A LABORATORY OF MOLECULAR ANALYSES IN MARINGÁ PR BRAZIL
spellingShingle FREQUENCY OF CHROMOSOME ABNORMALITIES IN PEOPLE ATTENDED IN A LABORATORY OF MOLECULAR ANALYSES IN MARINGÁ PR BRAZIL
de Almeida, Ayla Carolina
Genetic Counseling
Chromosome Alterations
Cytogenetics
Mother´s Age.
Aconselhamento Genético
Alterações Cromossômicas
Citogenética
Idade Materna
.
title_short FREQUENCY OF CHROMOSOME ABNORMALITIES IN PEOPLE ATTENDED IN A LABORATORY OF MOLECULAR ANALYSES IN MARINGÁ PR BRAZIL
title_full FREQUENCY OF CHROMOSOME ABNORMALITIES IN PEOPLE ATTENDED IN A LABORATORY OF MOLECULAR ANALYSES IN MARINGÁ PR BRAZIL
title_fullStr FREQUENCY OF CHROMOSOME ABNORMALITIES IN PEOPLE ATTENDED IN A LABORATORY OF MOLECULAR ANALYSES IN MARINGÁ PR BRAZIL
title_full_unstemmed FREQUENCY OF CHROMOSOME ABNORMALITIES IN PEOPLE ATTENDED IN A LABORATORY OF MOLECULAR ANALYSES IN MARINGÁ PR BRAZIL
title_sort FREQUENCY OF CHROMOSOME ABNORMALITIES IN PEOPLE ATTENDED IN A LABORATORY OF MOLECULAR ANALYSES IN MARINGÁ PR BRAZIL
author de Almeida, Ayla Carolina
author_facet de Almeida, Ayla Carolina
Macente, Sara
Brajão de Oliveira, Karen
author_role author
author2 Macente, Sara
Brajão de Oliveira, Karen
author2_role author
author
dc.contributor.author.fl_str_mv de Almeida, Ayla Carolina
Macente, Sara
Brajão de Oliveira, Karen
dc.subject.por.fl_str_mv Genetic Counseling
Chromosome Alterations
Cytogenetics
Mother´s Age.
Aconselhamento Genético
Alterações Cromossômicas
Citogenética
Idade Materna
.
topic Genetic Counseling
Chromosome Alterations
Cytogenetics
Mother´s Age.
Aconselhamento Genético
Alterações Cromossômicas
Citogenética
Idade Materna
.
description Chromosome abnormalities are currently the most frequent genetic diseases and responsible for high death rates and spontaneous abortions. Current analysis determines the frequency of chromosome abnormalities in all people attended at the laboratory of molecular analyses in Maringá PR Brazil between July 2011 and June 2012 who underwent tests due to a medical suspicion of changes and to evaluate the need to have genetic counseling after the diagnosis. Results showed that out of the 202 patients attended to, 32 (15.8%) had signs of changes, with 23 (71.8%) presenting numerical changes and 9 (28.1%) structural alterations. Mosaicism was also revealed in 13 (6.43%) patients. Results show that cytogenetic diagnosis is highly important for the identification of changes and genetic counseling of the patient and relatives.
publishDate 2013
dc.date.none.fl_str_mv 2013-11-27
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
Avaliado por Pares
Pesquisa Empirica de Campo
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv https://periodicos.unicesumar.edu.br/index.php/saudpesq/article/view/2586
url https://periodicos.unicesumar.edu.br/index.php/saudpesq/article/view/2586
dc.language.iso.fl_str_mv por
language por
dc.relation.none.fl_str_mv https://periodicos.unicesumar.edu.br/index.php/saudpesq/article/view/2586/2154
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 Universidade Cesumar - UniCesumar
publisher.none.fl_str_mv Universidade Cesumar - UniCesumar
dc.source.none.fl_str_mv Saúde e Pesquisa; Vol 6 No 3 (2013): set./dez.
Saúde e Pesquisa; v. 6 n. 3 (2013): set./dez.
2176-9206
reponame:Saúde e Pesquisa (Online)
instname:Cesumar Diretoria de Pesquisa
instacron:CESUMAR
instname_str Cesumar Diretoria de Pesquisa
instacron_str CESUMAR
institution CESUMAR
reponame_str Saúde e Pesquisa (Online)
collection Saúde e Pesquisa (Online)
repository.name.fl_str_mv Saúde e Pesquisa (Online) - Cesumar Diretoria de Pesquisa
repository.mail.fl_str_mv naep@cesumar.br
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