Publicação: X monosomy and balanced Robertsonian translocation in a girl with Turner Syndrome
dc.contributor.author | Silva, Aline Lourenço da [UNESP] | |
dc.contributor.author | Lima, Renata LL Ferreira de [UNESP] | |
dc.contributor.author | Ribeiro, Lucilene Arilho [UNESP] | |
dc.contributor.author | Moretti-Ferreira, Danilo [UNESP] | |
dc.contributor.institution | Universidade Estadual Paulista (Unesp) | |
dc.date.accessioned | 2014-05-20T15:17:28Z | |
dc.date.available | 2014-05-20T15:17:28Z | |
dc.date.issued | 2006-01-01 | |
dc.description.abstract | 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. | en |
dc.description.affiliation | Universidade Estadual Paulista Júlio de Mesquita Filho Serviço de Aconselhamento Genético | |
dc.description.affiliationUnesp | Universidade Estadual Paulista Júlio de Mesquita Filho Serviço de Aconselhamento Genético | |
dc.format.extent | 47-48 | |
dc.identifier | http://dx.doi.org/10.1590/S1415-47572006000100010 | |
dc.identifier.citation | Genetics and Molecular Biology. Sociedade Brasileira de Genética, v. 29, n. 1, p. 47-48, 2006. | |
dc.identifier.doi | 10.1590/S1415-47572006000100010 | |
dc.identifier.file | S1415-47572006000100010.pdf | |
dc.identifier.issn | 1415-4757 | |
dc.identifier.orcid | 0000-0002-9256-7623 | |
dc.identifier.scielo | S1415-47572006000100010 | |
dc.identifier.uri | http://hdl.handle.net/11449/30479 | |
dc.language.iso | eng | |
dc.publisher | Sociedade Brasileira de Genética | |
dc.relation.ispartof | Genetics and Molecular Biology | |
dc.relation.ispartofjcr | 1.493 | |
dc.relation.ispartofsjr | 0,638 | |
dc.rights.accessRights | Acesso aberto | |
dc.source | SciELO | |
dc.subject | Robertsonian translocation | en |
dc.subject | X monosomy | en |
dc.subject | interchromosomal effect | en |
dc.title | X monosomy and balanced Robertsonian translocation in a girl with Turner Syndrome | en |
dc.type | Artigo | |
dspace.entity.type | Publication | |
unesp.author.orcid | 0000-0002-9256-7623[4] | |
unesp.campus | Universidade Estadual Paulista (UNESP), Instituto de Biociências, Botucatu | pt |
unesp.department | Genética - IBB | pt |
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