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

Detalhes bibliográficos
Autor(a) principal: Silva,Aline Lourenço da
Data de Publicação: 2006
Outros Autores: Lima,Renata LL Ferreira de, Ribeiro,Lucilene Arilho, Moretti-Ferreira,Danilo
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=S1415-47572006000100010
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.Sociedade Brasileira de Genética2006-01-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572006000100010Genetics and Molecular Biology v.29 n.1 2006reponame:Genetics and Molecular Biologyinstname:Sociedade Brasileira de Genética (SBG)instacron:SBG10.1590/S1415-47572006000100010info:eu-repo/semantics/openAccessSilva,Aline Lourenço daLima,Renata LL Ferreira deRibeiro,Lucilene ArilhoMoretti-Ferreira,Daniloeng2006-03-10T00:00:00Zoai:scielo:S1415-47572006000100010Revistahttp://www.gmb.org.br/ONGhttps://old.scielo.br/oai/scielo-oai.php||editor@gmb.org.br1678-46851415-4757opendoar:2006-03-10T00:00Genetics and Molecular Biology - Sociedade Brasileira de Genética (SBG)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
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
author_facet Silva,Aline Lourenço da
Lima,Renata LL Ferreira de
Ribeiro,Lucilene Arilho
Moretti-Ferreira,Danilo
author_role author
author2 Lima,Renata LL Ferreira de
Ribeiro,Lucilene Arilho
Moretti-Ferreira,Danilo
author2_role author
author
author
dc.contributor.author.fl_str_mv Silva,Aline Lourenço da
Lima,Renata LL Ferreira de
Ribeiro,Lucilene Arilho
Moretti-Ferreira,Danilo
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
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=S1415-47572006000100010
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572006000100010
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/S1415-47572006000100010
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.29 n.1 2006
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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