Retrospective karyotype study in mentally retarded patients
Autor(a) principal: | |
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Data de Publicação: | 2016 |
Outros Autores: | , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Revista da Associação Médica Brasileira (Online) |
Texto Completo: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0104-42302016000300262 |
Resumo: | SUMMARY Objective: To describe the chromosomal alterations in patients with mental retardation (MR) using G-banding karyotype analysis. Method: A retrospective study of the results G-banding karyotype analysis of 369 patients investigated for MR was performed. Based on the structural rearrangements found, the authors searched all chromosomal regions related with breakpoints, and these were compared with the literature on MR and databases. Results: 338 (91.6%) normal cases, and 31 (8.4%) with some type of chromosomal abnormality were identified. Among the altered cases, 21 patients (67.8%) were identified with structural chromosomal alterations, nine (29%) with numerical alterations, and one (3.2%) with numerical and structural alterations. Conclusion: Structural chromosomal abnormalities were observed more frequently in this study. G-banding karyotyping contributes to the investigation of the causes of MR, showing that this technique can be useful for initial screening of patients. However, higher resolution techniques such as array based comparative genomic hybridization (aCGH) and multiplex ligation-dependent probe amplification (MPLA) can detect submicroscopic alterations commonly associated with MR. |
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Retrospective karyotype study in mentally retarded patientskaryotypeintellectual disabilitychromosome aberrationsSUMMARY Objective: To describe the chromosomal alterations in patients with mental retardation (MR) using G-banding karyotype analysis. Method: A retrospective study of the results G-banding karyotype analysis of 369 patients investigated for MR was performed. Based on the structural rearrangements found, the authors searched all chromosomal regions related with breakpoints, and these were compared with the literature on MR and databases. Results: 338 (91.6%) normal cases, and 31 (8.4%) with some type of chromosomal abnormality were identified. Among the altered cases, 21 patients (67.8%) were identified with structural chromosomal alterations, nine (29%) with numerical alterations, and one (3.2%) with numerical and structural alterations. Conclusion: Structural chromosomal abnormalities were observed more frequently in this study. G-banding karyotyping contributes to the investigation of the causes of MR, showing that this technique can be useful for initial screening of patients. However, higher resolution techniques such as array based comparative genomic hybridization (aCGH) and multiplex ligation-dependent probe amplification (MPLA) can detect submicroscopic alterations commonly associated with MR.Associação Médica Brasileira2016-06-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0104-42302016000300262Revista da Associação Médica Brasileira v.62 n.3 2016reponame:Revista da Associação Médica Brasileira (Online)instname:Associação Médica Brasileira (AMB)instacron:AMB10.1590/1806-9282.62.03.262info:eu-repo/semantics/openAccessTeixeira,Wellcy GonçalvesMarques,Fabiana KalinaFreire,Maíra Cristina Menezeseng2016-06-09T00:00:00Zoai:scielo:S0104-42302016000300262Revistahttps://ramb.amb.org.br/ultimas-edicoes/#https://old.scielo.br/oai/scielo-oai.php||ramb@amb.org.br1806-92820104-4230opendoar:2016-06-09T00:00Revista da Associação Médica Brasileira (Online) - Associação Médica Brasileira (AMB)false |
dc.title.none.fl_str_mv |
Retrospective karyotype study in mentally retarded patients |
title |
Retrospective karyotype study in mentally retarded patients |
spellingShingle |
Retrospective karyotype study in mentally retarded patients Teixeira,Wellcy Gonçalves karyotype intellectual disability chromosome aberrations |
title_short |
Retrospective karyotype study in mentally retarded patients |
title_full |
Retrospective karyotype study in mentally retarded patients |
title_fullStr |
Retrospective karyotype study in mentally retarded patients |
title_full_unstemmed |
Retrospective karyotype study in mentally retarded patients |
title_sort |
Retrospective karyotype study in mentally retarded patients |
author |
Teixeira,Wellcy Gonçalves |
author_facet |
Teixeira,Wellcy Gonçalves Marques,Fabiana Kalina Freire,Maíra Cristina Menezes |
author_role |
author |
author2 |
Marques,Fabiana Kalina Freire,Maíra Cristina Menezes |
author2_role |
author author |
dc.contributor.author.fl_str_mv |
Teixeira,Wellcy Gonçalves Marques,Fabiana Kalina Freire,Maíra Cristina Menezes |
dc.subject.por.fl_str_mv |
karyotype intellectual disability chromosome aberrations |
topic |
karyotype intellectual disability chromosome aberrations |
description |
SUMMARY Objective: To describe the chromosomal alterations in patients with mental retardation (MR) using G-banding karyotype analysis. Method: A retrospective study of the results G-banding karyotype analysis of 369 patients investigated for MR was performed. Based on the structural rearrangements found, the authors searched all chromosomal regions related with breakpoints, and these were compared with the literature on MR and databases. Results: 338 (91.6%) normal cases, and 31 (8.4%) with some type of chromosomal abnormality were identified. Among the altered cases, 21 patients (67.8%) were identified with structural chromosomal alterations, nine (29%) with numerical alterations, and one (3.2%) with numerical and structural alterations. Conclusion: Structural chromosomal abnormalities were observed more frequently in this study. G-banding karyotyping contributes to the investigation of the causes of MR, showing that this technique can be useful for initial screening of patients. However, higher resolution techniques such as array based comparative genomic hybridization (aCGH) and multiplex ligation-dependent probe amplification (MPLA) can detect submicroscopic alterations commonly associated with MR. |
publishDate |
2016 |
dc.date.none.fl_str_mv |
2016-06-01 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0104-42302016000300262 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0104-42302016000300262 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1590/1806-9282.62.03.262 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
text/html |
dc.publisher.none.fl_str_mv |
Associação Médica Brasileira |
publisher.none.fl_str_mv |
Associação Médica Brasileira |
dc.source.none.fl_str_mv |
Revista da Associação Médica Brasileira v.62 n.3 2016 reponame:Revista da Associação Médica Brasileira (Online) instname:Associação Médica Brasileira (AMB) instacron:AMB |
instname_str |
Associação Médica Brasileira (AMB) |
instacron_str |
AMB |
institution |
AMB |
reponame_str |
Revista da Associação Médica Brasileira (Online) |
collection |
Revista da Associação Médica Brasileira (Online) |
repository.name.fl_str_mv |
Revista da Associação Médica Brasileira (Online) - Associação Médica Brasileira (AMB) |
repository.mail.fl_str_mv |
||ramb@amb.org.br |
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1754212831927992320 |