Analysis of chromosomal abnormalities by CGH-array in patients with dysmorphic and intellectual disability with normal karyotype

Detalhes bibliográficos
Autor(a) principal: Pratte-Santos,Rodrigo
Data de Publicação: 2016
Outros Autores: Ribeiro,Katyanne Heringer, Santos,Thainá Altoe, Cintra,Terezinha Sarquis
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Einstein (São Paulo)
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1679-45082016000100030
Resumo: ABSTRACT Objective To investigate chromosomal abnormalities by CGH-array in patients with dysmorphic features and intellectual disability with normal conventional karyotype. Methods Retrospective study, carried out from January 2012 to February 2014, analyzing the CGH-array results of 39 patients. Results Twenty-six (66.7%) patients had normal results and 13 (33.3%) showed abnormal results - in that, 6 (15.4%) had pathogenic variants, 6 (15.4%) variants designated as uncertain and 1 (2.5%) non-pathogenic variants. Conclusion The characterization of the genetic profile by CGH-array in patients with intellectual disability and dysmorphic features enabled making etiologic diagnosis, followed by genetic counseling for families and specific treatment.
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spelling Analysis of chromosomal abnormalities by CGH-array in patients with dysmorphic and intellectual disability with normal karyotypeChromosome aberrationsComparative genomic hybridization/methodsKaryotypeBody dysmorphic disordersIntellectual disabilityABSTRACT Objective To investigate chromosomal abnormalities by CGH-array in patients with dysmorphic features and intellectual disability with normal conventional karyotype. Methods Retrospective study, carried out from January 2012 to February 2014, analyzing the CGH-array results of 39 patients. Results Twenty-six (66.7%) patients had normal results and 13 (33.3%) showed abnormal results - in that, 6 (15.4%) had pathogenic variants, 6 (15.4%) variants designated as uncertain and 1 (2.5%) non-pathogenic variants. Conclusion The characterization of the genetic profile by CGH-array in patients with intellectual disability and dysmorphic features enabled making etiologic diagnosis, followed by genetic counseling for families and specific treatment.Instituto Israelita de Ensino e Pesquisa Albert Einstein2016-03-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1679-45082016000100030einstein (São Paulo) v.14 n.1 2016reponame:Einstein (São Paulo)instname:Instituto Israelita de Ensino e Pesquisa Albert Einstein (IIEPAE)instacron:IIEPAE10.1590/S1679-45082016AO3592info:eu-repo/semantics/openAccessPratte-Santos,RodrigoRibeiro,Katyanne HeringerSantos,Thainá AltoeCintra,Terezinha Sarquiseng2016-04-05T00:00:00Zoai:scielo:S1679-45082016000100030Revistahttps://journal.einstein.br/pt-br/ONGhttps://old.scielo.br/oai/scielo-oai.php||revista@einstein.br2317-63851679-4508opendoar:2016-04-05T00:00Einstein (São Paulo) - Instituto Israelita de Ensino e Pesquisa Albert Einstein (IIEPAE)false
dc.title.none.fl_str_mv Analysis of chromosomal abnormalities by CGH-array in patients with dysmorphic and intellectual disability with normal karyotype
title Analysis of chromosomal abnormalities by CGH-array in patients with dysmorphic and intellectual disability with normal karyotype
spellingShingle Analysis of chromosomal abnormalities by CGH-array in patients with dysmorphic and intellectual disability with normal karyotype
Pratte-Santos,Rodrigo
Chromosome aberrations
Comparative genomic hybridization/methods
Karyotype
Body dysmorphic disorders
Intellectual disability
title_short Analysis of chromosomal abnormalities by CGH-array in patients with dysmorphic and intellectual disability with normal karyotype
title_full Analysis of chromosomal abnormalities by CGH-array in patients with dysmorphic and intellectual disability with normal karyotype
title_fullStr Analysis of chromosomal abnormalities by CGH-array in patients with dysmorphic and intellectual disability with normal karyotype
title_full_unstemmed Analysis of chromosomal abnormalities by CGH-array in patients with dysmorphic and intellectual disability with normal karyotype
title_sort Analysis of chromosomal abnormalities by CGH-array in patients with dysmorphic and intellectual disability with normal karyotype
author Pratte-Santos,Rodrigo
author_facet Pratte-Santos,Rodrigo
Ribeiro,Katyanne Heringer
Santos,Thainá Altoe
Cintra,Terezinha Sarquis
author_role author
author2 Ribeiro,Katyanne Heringer
Santos,Thainá Altoe
Cintra,Terezinha Sarquis
author2_role author
author
author
dc.contributor.author.fl_str_mv Pratte-Santos,Rodrigo
Ribeiro,Katyanne Heringer
Santos,Thainá Altoe
Cintra,Terezinha Sarquis
dc.subject.por.fl_str_mv Chromosome aberrations
Comparative genomic hybridization/methods
Karyotype
Body dysmorphic disorders
Intellectual disability
topic Chromosome aberrations
Comparative genomic hybridization/methods
Karyotype
Body dysmorphic disorders
Intellectual disability
description ABSTRACT Objective To investigate chromosomal abnormalities by CGH-array in patients with dysmorphic features and intellectual disability with normal conventional karyotype. Methods Retrospective study, carried out from January 2012 to February 2014, analyzing the CGH-array results of 39 patients. Results Twenty-six (66.7%) patients had normal results and 13 (33.3%) showed abnormal results - in that, 6 (15.4%) had pathogenic variants, 6 (15.4%) variants designated as uncertain and 1 (2.5%) non-pathogenic variants. Conclusion The characterization of the genetic profile by CGH-array in patients with intellectual disability and dysmorphic features enabled making etiologic diagnosis, followed by genetic counseling for families and specific treatment.
publishDate 2016
dc.date.none.fl_str_mv 2016-03-01
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=S1679-45082016000100030
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1679-45082016000100030
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/S1679-45082016AO3592
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 Instituto Israelita de Ensino e Pesquisa Albert Einstein
publisher.none.fl_str_mv Instituto Israelita de Ensino e Pesquisa Albert Einstein
dc.source.none.fl_str_mv einstein (São Paulo) v.14 n.1 2016
reponame:Einstein (São Paulo)
instname:Instituto Israelita de Ensino e Pesquisa Albert Einstein (IIEPAE)
instacron:IIEPAE
instname_str Instituto Israelita de Ensino e Pesquisa Albert Einstein (IIEPAE)
instacron_str IIEPAE
institution IIEPAE
reponame_str Einstein (São Paulo)
collection Einstein (São Paulo)
repository.name.fl_str_mv Einstein (São Paulo) - Instituto Israelita de Ensino e Pesquisa Albert Einstein (IIEPAE)
repository.mail.fl_str_mv ||revista@einstein.br
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