Fluorescent in situ hybridization (FISH) as a diagnostic tool for Williams-Beuren syndrome
Autor(a) principal: | |
---|---|
Data de Publicação: | 2007 |
Outros Autores: | , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Institucional da UNESP |
Texto Completo: | http://hdl.handle.net/11449/195865 |
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. |
id |
UNSP_d0ddf9b178dbb0bc9a624c9f1a3b0c33 |
---|---|
oai_identifier_str |
oai:repositorio.unesp.br:11449/195865 |
network_acronym_str |
UNSP |
network_name_str |
Repositório Institucional da UNESP |
repository_id_str |
2946 |
spelling |
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.UNESP, Inst Biociencias, Dept Genet, Serv Aconselhamento Genet, BR-18618000 Botucatu, SP, BrazilUniv Estadual Paulista, Fac Med, Dept Pediat, Botucatu, SP, BrazilUNESP, Inst Biociencias, Dept Genet, Serv Aconselhamento Genet, BR-18618000 Botucatu, SP, BrazilUniv Estadual Paulista, Fac Med, Dept Pediat, Botucatu, SP, BrazilSoc Brasil GeneticaUniversidade Estadual Paulista (Unesp)Souza, Deise Helena deMoretti-Ferreira, DaniloSouza Rugo, Ligia Maria Suppo de2020-12-10T18:05:57Z2020-12-10T18:05:57Z2007-03-01info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/article17-20Genetics And Molecular Biology. Ribeirao Pret: Soc Brasil Genetica, v. 30, n. 1, p. 17-20, 2007.1415-4757http://hdl.handle.net/11449/195865WOS:000245281700005Web of Sciencereponame:Repositório Institucional da UNESPinstname:Universidade Estadual Paulista (UNESP)instacron:UNESPengGenetics And Molecular Biologyinfo:eu-repo/semantics/openAccess2021-10-23T12:19:10Zoai:repositorio.unesp.br:11449/195865Repositório InstitucionalPUBhttp://repositorio.unesp.br/oai/requestopendoar:29462021-10-23T12:19:10Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP)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 Souza Rugo, Ligia Maria Suppo de |
author_role |
author |
author2 |
Moretti-Ferreira, Danilo Souza Rugo, Ligia Maria Suppo de |
author2_role |
author author |
dc.contributor.none.fl_str_mv |
Universidade Estadual Paulista (Unesp) |
dc.contributor.author.fl_str_mv |
Souza, Deise Helena de Moretti-Ferreira, Danilo Souza Rugo, Ligia Maria Suppo de |
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 |
2007-03-01 2020-12-10T18:05:57Z 2020-12-10T18:05:57Z |
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 |
Genetics And Molecular Biology. Ribeirao Pret: Soc Brasil Genetica, v. 30, n. 1, p. 17-20, 2007. 1415-4757 http://hdl.handle.net/11449/195865 WOS:000245281700005 |
identifier_str_mv |
Genetics And Molecular Biology. Ribeirao Pret: Soc Brasil Genetica, v. 30, n. 1, p. 17-20, 2007. 1415-4757 WOS:000245281700005 |
url |
http://hdl.handle.net/11449/195865 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
Genetics And Molecular Biology |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
17-20 |
dc.publisher.none.fl_str_mv |
Soc Brasil Genetica |
publisher.none.fl_str_mv |
Soc Brasil Genetica |
dc.source.none.fl_str_mv |
Web of Science reponame:Repositório Institucional da UNESP instname:Universidade Estadual Paulista (UNESP) instacron:UNESP |
instname_str |
Universidade Estadual Paulista (UNESP) |
instacron_str |
UNESP |
institution |
UNESP |
reponame_str |
Repositório Institucional da UNESP |
collection |
Repositório Institucional da UNESP |
repository.name.fl_str_mv |
Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP) |
repository.mail.fl_str_mv |
|
_version_ |
1799964530988548096 |