Fluorescent in situ hybridization (FISH) as a diagnostic tool for Williams-Beuren syndrome
Autor(a) principal: | |
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Data de Publicação: | 2007 |
Outros Autores: | , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Genetics and Molecular Biology |
Texto Completo: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572007000100005 |
Resumo: | Fluorescent in situ hybridization (FISH) with commercial probes covering the elastin gene (ELN) was used to determine the frequency of the 7q11.23 deletion in 18 children clinically diagnosed with Williams-Beuren syndrome (WBS). A de novo deletion was detected in 15 of the children (83%). Diagnostic investigation for WBS started late in childhood (median = 5.8 years). All the children showed facial features typical of the syndrome, mental retardation and developmental delay. Over-friendliness was observed in the majority of cases. Clinodactyly of the 5th finger (n = 13), cardiovascular disease (n = 9), loquacity (n = 9), low birthweight (n = 8), and failure to thrive (n = 9) were observed only in those children with the deletion. Respiratory problems (n = 9), though not previously reported in the literature, was a common finding in the group studied. Our results confirmed that FISH is useful in identifying 7q11.23 deletions in cases of WBS. Clinical manifestations were more evident in the deletion-positive children. |
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Fluorescent in situ hybridization (FISH) as a diagnostic tool for Williams-Beuren syndrome7q11.23 deletionELNFISHWilliams-Beuren syndromeFluorescent in situ hybridization (FISH) with commercial probes covering the elastin gene (ELN) was used to determine the frequency of the 7q11.23 deletion in 18 children clinically diagnosed with Williams-Beuren syndrome (WBS). A de novo deletion was detected in 15 of the children (83%). Diagnostic investigation for WBS started late in childhood (median = 5.8 years). All the children showed facial features typical of the syndrome, mental retardation and developmental delay. Over-friendliness was observed in the majority of cases. Clinodactyly of the 5th finger (n = 13), cardiovascular disease (n = 9), loquacity (n = 9), low birthweight (n = 8), and failure to thrive (n = 9) were observed only in those children with the deletion. Respiratory problems (n = 9), though not previously reported in the literature, was a common finding in the group studied. Our results confirmed that FISH is useful in identifying 7q11.23 deletions in cases of WBS. Clinical manifestations were more evident in the deletion-positive children.Sociedade Brasileira de Genética2007-01-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572007000100005Genetics and Molecular Biology v.30 n.1 2007reponame:Genetics and Molecular Biologyinstname:Sociedade Brasileira de Genética (SBG)instacron:SBG10.1590/S1415-47572007000100005info:eu-repo/semantics/openAccessSouza,Deise Helena deMoretti-Ferreira,DaniloRugolo,Lígia Maria Suppo de Souzaeng2007-03-26T00:00:00Zoai:scielo:S1415-47572007000100005Revistahttp://www.gmb.org.br/ONGhttps://old.scielo.br/oai/scielo-oai.php||editor@gmb.org.br1678-46851415-4757opendoar:2007-03-26T00:00Genetics and Molecular Biology - Sociedade Brasileira de Genética (SBG)false |
dc.title.none.fl_str_mv |
Fluorescent in situ hybridization (FISH) as a diagnostic tool for Williams-Beuren syndrome |
title |
Fluorescent in situ hybridization (FISH) as a diagnostic tool for Williams-Beuren syndrome |
spellingShingle |
Fluorescent in situ hybridization (FISH) as a diagnostic tool for Williams-Beuren syndrome Souza,Deise Helena de 7q11.23 deletion ELN FISH Williams-Beuren syndrome |
title_short |
Fluorescent in situ hybridization (FISH) as a diagnostic tool for Williams-Beuren syndrome |
title_full |
Fluorescent in situ hybridization (FISH) as a diagnostic tool for Williams-Beuren syndrome |
title_fullStr |
Fluorescent in situ hybridization (FISH) as a diagnostic tool for Williams-Beuren syndrome |
title_full_unstemmed |
Fluorescent in situ hybridization (FISH) as a diagnostic tool for Williams-Beuren syndrome |
title_sort |
Fluorescent in situ hybridization (FISH) as a diagnostic tool for Williams-Beuren syndrome |
author |
Souza,Deise Helena de |
author_facet |
Souza,Deise Helena de Moretti-Ferreira,Danilo Rugolo,Lígia Maria Suppo de Souza |
author_role |
author |
author2 |
Moretti-Ferreira,Danilo Rugolo,Lígia Maria Suppo de Souza |
author2_role |
author author |
dc.contributor.author.fl_str_mv |
Souza,Deise Helena de Moretti-Ferreira,Danilo Rugolo,Lígia Maria Suppo de Souza |
dc.subject.por.fl_str_mv |
7q11.23 deletion ELN FISH Williams-Beuren syndrome |
topic |
7q11.23 deletion ELN FISH Williams-Beuren syndrome |
description |
Fluorescent in situ hybridization (FISH) with commercial probes covering the elastin gene (ELN) was used to determine the frequency of the 7q11.23 deletion in 18 children clinically diagnosed with Williams-Beuren syndrome (WBS). A de novo deletion was detected in 15 of the children (83%). Diagnostic investigation for WBS started late in childhood (median = 5.8 years). All the children showed facial features typical of the syndrome, mental retardation and developmental delay. Over-friendliness was observed in the majority of cases. Clinodactyly of the 5th finger (n = 13), cardiovascular disease (n = 9), loquacity (n = 9), low birthweight (n = 8), and failure to thrive (n = 9) were observed only in those children with the deletion. Respiratory problems (n = 9), though not previously reported in the literature, was a common finding in the group studied. Our results confirmed that FISH is useful in identifying 7q11.23 deletions in cases of WBS. Clinical manifestations were more evident in the deletion-positive children. |
publishDate |
2007 |
dc.date.none.fl_str_mv |
2007-01-01 |
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=S1415-47572007000100005 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572007000100005 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1590/S1415-47572007000100005 |
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 |
Sociedade Brasileira de Genética |
publisher.none.fl_str_mv |
Sociedade Brasileira de Genética |
dc.source.none.fl_str_mv |
Genetics and Molecular Biology v.30 n.1 2007 reponame:Genetics and Molecular Biology instname:Sociedade Brasileira de Genética (SBG) instacron:SBG |
instname_str |
Sociedade Brasileira de Genética (SBG) |
instacron_str |
SBG |
institution |
SBG |
reponame_str |
Genetics and Molecular Biology |
collection |
Genetics and Molecular Biology |
repository.name.fl_str_mv |
Genetics and Molecular Biology - Sociedade Brasileira de Genética (SBG) |
repository.mail.fl_str_mv |
||editor@gmb.org.br |
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1752122380287737856 |