Sulcus vocalis: evidence for autosomal dominant inheritance

Detalhes bibliográficos
Autor(a) principal: Martins, Regina Helena Garcia [UNESP]
Data de Publicação: 2011
Outros Autores: Goncalves, T. M. [UNESP], Neves, D. S. [UNESP], Fracalossi, T. A. [UNESP], Tavares, E. L. M. [UNESP], Moretti-Ferreira, D. [UNESP]
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da UNESP
Texto Completo: http://dx.doi.org/10.4238/2011.December.19.5
http://hdl.handle.net/11449/12693
Resumo: We found evidence of autosomal dominant hereditary transmission of sulcus vocalis. Four dysphonic patients from three generations of the same family were submitted to videolaryngoscopic examination (three patients) and to direct laryngoscopy ( one patient) to diagnose the hoarseness. Sulcus vocalis was diagnosed in all four patients. The finding of four affected individuals in three generations, with vertical transmission affecting man and women, is more consistent with autosomal dominant inheritance pattern; it is an etiological model that we propose for the sulcus vocalis in this pedigree.
id UNSP_6bbe3337f04a038b89e9f413f004db9e
oai_identifier_str oai:repositorio.unesp.br:11449/12693
network_acronym_str UNSP
network_name_str Repositório Institucional da UNESP
repository_id_str 2946
spelling Sulcus vocalis: evidence for autosomal dominant inheritanceAutosomal dominantSulcus vocalisHoarsenessVideolaryngoscopyGeneticsLaryngeal developmentWe found evidence of autosomal dominant hereditary transmission of sulcus vocalis. Four dysphonic patients from three generations of the same family were submitted to videolaryngoscopic examination (three patients) and to direct laryngoscopy ( one patient) to diagnose the hoarseness. Sulcus vocalis was diagnosed in all four patients. The finding of four affected individuals in three generations, with vertical transmission affecting man and women, is more consistent with autosomal dominant inheritance pattern; it is an etiological model that we propose for the sulcus vocalis in this pedigree.Univ Estadual São Paulo Julio de Mesquita Filho, Dept Genet, Inst Biociencias, Botucatu, SP, BrazilUniv Estadual São Paulo Julio de Mesquita Filho, Dept Otorrinolaringol, Fac Med Botucatu, Botucatu, SP, BrazilUniv Estadual São Paulo Julio de Mesquita Filho, Dept Genet, Inst Biociencias, Botucatu, SP, BrazilUniv Estadual São Paulo Julio de Mesquita Filho, Dept Otorrinolaringol, Fac Med Botucatu, Botucatu, SP, BrazilFunpec-editoraUniversidade Estadual Paulista (Unesp)Martins, Regina Helena Garcia [UNESP]Goncalves, T. M. [UNESP]Neves, D. S. [UNESP]Fracalossi, T. A. [UNESP]Tavares, E. L. M. [UNESP]Moretti-Ferreira, D. [UNESP]2014-05-20T13:36:53Z2014-05-20T13:36:53Z2011-01-01info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/article3163-3168application/pdfhttp://dx.doi.org/10.4238/2011.December.19.5Genetics and Molecular Research. Ribeirao Preto: Funpec-editora, v. 10, n. 4, p. 3163-3168, 2011.1676-5680http://hdl.handle.net/11449/1269310.4238/2011.December.19.5WOS:000300617600089WOS000300617600089.pdf8683290712226765Web of Sciencereponame:Repositório Institucional da UNESPinstname:Universidade Estadual Paulista (UNESP)instacron:UNESPengGenetics and Molecular Research0,439info:eu-repo/semantics/openAccess2024-08-16T18:43:34Zoai:repositorio.unesp.br:11449/12693Repositório InstitucionalPUBhttp://repositorio.unesp.br/oai/requestopendoar:29462024-08-16T18:43:34Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP)false
dc.title.none.fl_str_mv Sulcus vocalis: evidence for autosomal dominant inheritance
title Sulcus vocalis: evidence for autosomal dominant inheritance
spellingShingle Sulcus vocalis: evidence for autosomal dominant inheritance
Martins, Regina Helena Garcia [UNESP]
Autosomal dominant
Sulcus vocalis
Hoarseness
Videolaryngoscopy
Genetics
Laryngeal development
title_short Sulcus vocalis: evidence for autosomal dominant inheritance
title_full Sulcus vocalis: evidence for autosomal dominant inheritance
title_fullStr Sulcus vocalis: evidence for autosomal dominant inheritance
title_full_unstemmed Sulcus vocalis: evidence for autosomal dominant inheritance
title_sort Sulcus vocalis: evidence for autosomal dominant inheritance
author Martins, Regina Helena Garcia [UNESP]
author_facet Martins, Regina Helena Garcia [UNESP]
Goncalves, T. M. [UNESP]
Neves, D. S. [UNESP]
Fracalossi, T. A. [UNESP]
Tavares, E. L. M. [UNESP]
Moretti-Ferreira, D. [UNESP]
author_role author
author2 Goncalves, T. M. [UNESP]
Neves, D. S. [UNESP]
Fracalossi, T. A. [UNESP]
Tavares, E. L. M. [UNESP]
Moretti-Ferreira, D. [UNESP]
author2_role author
author
author
author
author
dc.contributor.none.fl_str_mv Universidade Estadual Paulista (Unesp)
dc.contributor.author.fl_str_mv Martins, Regina Helena Garcia [UNESP]
Goncalves, T. M. [UNESP]
Neves, D. S. [UNESP]
Fracalossi, T. A. [UNESP]
Tavares, E. L. M. [UNESP]
Moretti-Ferreira, D. [UNESP]
dc.subject.por.fl_str_mv Autosomal dominant
Sulcus vocalis
Hoarseness
Videolaryngoscopy
Genetics
Laryngeal development
topic Autosomal dominant
Sulcus vocalis
Hoarseness
Videolaryngoscopy
Genetics
Laryngeal development
description We found evidence of autosomal dominant hereditary transmission of sulcus vocalis. Four dysphonic patients from three generations of the same family were submitted to videolaryngoscopic examination (three patients) and to direct laryngoscopy ( one patient) to diagnose the hoarseness. Sulcus vocalis was diagnosed in all four patients. The finding of four affected individuals in three generations, with vertical transmission affecting man and women, is more consistent with autosomal dominant inheritance pattern; it is an etiological model that we propose for the sulcus vocalis in this pedigree.
publishDate 2011
dc.date.none.fl_str_mv 2011-01-01
2014-05-20T13:36:53Z
2014-05-20T13:36:53Z
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 http://dx.doi.org/10.4238/2011.December.19.5
Genetics and Molecular Research. Ribeirao Preto: Funpec-editora, v. 10, n. 4, p. 3163-3168, 2011.
1676-5680
http://hdl.handle.net/11449/12693
10.4238/2011.December.19.5
WOS:000300617600089
WOS000300617600089.pdf
8683290712226765
url http://dx.doi.org/10.4238/2011.December.19.5
http://hdl.handle.net/11449/12693
identifier_str_mv Genetics and Molecular Research. Ribeirao Preto: Funpec-editora, v. 10, n. 4, p. 3163-3168, 2011.
1676-5680
10.4238/2011.December.19.5
WOS:000300617600089
WOS000300617600089.pdf
8683290712226765
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Genetics and Molecular Research
0,439
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv 3163-3168
application/pdf
dc.publisher.none.fl_str_mv Funpec-editora
publisher.none.fl_str_mv Funpec-editora
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_ 1808128112571973632