X monosomy and balanced Robertsonian translocation in a girl with Turner Syndrome

Detalhes bibliográficos
Autor(a) principal: Silva, Aline Lourenço da [UNESP]
Data de Publicação: 2006
Outros Autores: Lima, Renata LL Ferreira de [UNESP], Ribeiro, Lucilene Arilho [UNESP], Moretti-Ferreira, Danilo [UNESP]
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da UNESP
Texto Completo: http://dx.doi.org/10.1590/S1415-47572006000100010
http://hdl.handle.net/11449/30479
Resumo: We describe a case of X monosomy associated with a maternally inherited t(13;14) Robertsonian translocation in a girl with Turner syndrome. The girl's X chromosome was demonstrated to be maternally inherited, ruling out the hypothesis that the translocation exerted an interchromosomal effect on the origin of the monosomy. Chromosomes 13 and 14 showed biparental inheritance.
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spelling X monosomy and balanced Robertsonian translocation in a girl with Turner SyndromeRobertsonian translocationX monosomyinterchromosomal effectWe describe a case of X monosomy associated with a maternally inherited t(13;14) Robertsonian translocation in a girl with Turner syndrome. The girl's X chromosome was demonstrated to be maternally inherited, ruling out the hypothesis that the translocation exerted an interchromosomal effect on the origin of the monosomy. Chromosomes 13 and 14 showed biparental inheritance.Universidade Estadual Paulista Júlio de Mesquita Filho Serviço de Aconselhamento GenéticoUniversidade Estadual Paulista Júlio de Mesquita Filho Serviço de Aconselhamento GenéticoSociedade Brasileira de GenéticaUniversidade Estadual Paulista (Unesp)Silva, Aline Lourenço da [UNESP]Lima, Renata LL Ferreira de [UNESP]Ribeiro, Lucilene Arilho [UNESP]Moretti-Ferreira, Danilo [UNESP]2014-05-20T15:17:28Z2014-05-20T15:17:28Z2006-01-01info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/article47-48application/pdfhttp://dx.doi.org/10.1590/S1415-47572006000100010Genetics and Molecular Biology. Sociedade Brasileira de Genética, v. 29, n. 1, p. 47-48, 2006.1415-4757http://hdl.handle.net/11449/3047910.1590/S1415-47572006000100010S1415-47572006000100010S1415-47572006000100010.pdf0000-0002-9256-7623SciELOreponame:Repositório Institucional da UNESPinstname:Universidade Estadual Paulista (UNESP)instacron:UNESPengGenetics and Molecular Biology1.4930,638info:eu-repo/semantics/openAccess2024-01-06T06:29:40Zoai:repositorio.unesp.br:11449/30479Repositório InstitucionalPUBhttp://repositorio.unesp.br/oai/requestopendoar:29462024-08-05T22:16:35.746739Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP)false
dc.title.none.fl_str_mv X monosomy and balanced Robertsonian translocation in a girl with Turner Syndrome
title X monosomy and balanced Robertsonian translocation in a girl with Turner Syndrome
spellingShingle X monosomy and balanced Robertsonian translocation in a girl with Turner Syndrome
Silva, Aline Lourenço da [UNESP]
Robertsonian translocation
X monosomy
interchromosomal effect
title_short X monosomy and balanced Robertsonian translocation in a girl with Turner Syndrome
title_full X monosomy and balanced Robertsonian translocation in a girl with Turner Syndrome
title_fullStr X monosomy and balanced Robertsonian translocation in a girl with Turner Syndrome
title_full_unstemmed X monosomy and balanced Robertsonian translocation in a girl with Turner Syndrome
title_sort X monosomy and balanced Robertsonian translocation in a girl with Turner Syndrome
author Silva, Aline Lourenço da [UNESP]
author_facet Silva, Aline Lourenço da [UNESP]
Lima, Renata LL Ferreira de [UNESP]
Ribeiro, Lucilene Arilho [UNESP]
Moretti-Ferreira, Danilo [UNESP]
author_role author
author2 Lima, Renata LL Ferreira de [UNESP]
Ribeiro, Lucilene Arilho [UNESP]
Moretti-Ferreira, Danilo [UNESP]
author2_role author
author
author
dc.contributor.none.fl_str_mv Universidade Estadual Paulista (Unesp)
dc.contributor.author.fl_str_mv Silva, Aline Lourenço da [UNESP]
Lima, Renata LL Ferreira de [UNESP]
Ribeiro, Lucilene Arilho [UNESP]
Moretti-Ferreira, Danilo [UNESP]
dc.subject.por.fl_str_mv Robertsonian translocation
X monosomy
interchromosomal effect
topic Robertsonian translocation
X monosomy
interchromosomal effect
description We describe a case of X monosomy associated with a maternally inherited t(13;14) Robertsonian translocation in a girl with Turner syndrome. The girl's X chromosome was demonstrated to be maternally inherited, ruling out the hypothesis that the translocation exerted an interchromosomal effect on the origin of the monosomy. Chromosomes 13 and 14 showed biparental inheritance.
publishDate 2006
dc.date.none.fl_str_mv 2006-01-01
2014-05-20T15:17:28Z
2014-05-20T15:17:28Z
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/10.1590/S1415-47572006000100010
Genetics and Molecular Biology. Sociedade Brasileira de Genética, v. 29, n. 1, p. 47-48, 2006.
1415-4757
http://hdl.handle.net/11449/30479
10.1590/S1415-47572006000100010
S1415-47572006000100010
S1415-47572006000100010.pdf
0000-0002-9256-7623
url http://dx.doi.org/10.1590/S1415-47572006000100010
http://hdl.handle.net/11449/30479
identifier_str_mv Genetics and Molecular Biology. Sociedade Brasileira de Genética, v. 29, n. 1, p. 47-48, 2006.
1415-4757
10.1590/S1415-47572006000100010
S1415-47572006000100010
S1415-47572006000100010.pdf
0000-0002-9256-7623
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Genetics and Molecular Biology
1.493
0,638
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv 47-48
application/pdf
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 SciELO
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_ 1808129412452843520

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