Y chromosome in Turner syndrome: detection of hidden mosaicism and the report of a rare X;Y translocation case

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dc.contributor.authorSales Bispo, Adriana Valeria
dc.contributor.authorBuregio-Frota, Pollyanna
dc.contributor.authorSantos, Luana Oliveira dos
dc.contributor.authorLeal, Gabriela Ferraz
dc.contributor.authorDuarte, Andrea Rezende
dc.contributor.authorAraujo, Jacqueline
dc.contributor.authorSilva, Vanessa Cavalcante da [UNIFESP]
dc.contributor.authorCartaxo Muniz, Maria Tereza
dc.contributor.authorLiehr, Thomas
dc.contributor.authorSantos, Neide
dc.contributor.institutionUniversidade Federal de Pernambuco (UFPE)
dc.contributor.institutionInst Med Integral Prof Fernando Figueira IMIP
dc.contributor.institutionHosp Oswaldo Cruz UPE
dc.contributor.institutionUniversidade Federal de São Paulo (UNIFESP)
dc.contributor.institutionInst Ciencias Biol
dc.contributor.institutionUniv Jena
dc.date.accessioned2016-01-24T14:35:04Z
dc.date.available2016-01-24T14:35:04Z
dc.date.issued2014-01-01
dc.description.abstractTurner syndrome (TS) is a common genetic disorder in females associated with the absence of complete or parts of a second sex chromosome. in 5-12% of patients, mosaicism for a cell line with a normal or structurally abnormal Y chromosome is identified. the presence of Y-chromosome material is of medical importance because it results in an increased risk of developing gonadal tumours and virilisation. Molecular study and fluorescence in situ hybridisation approaches were used to study 74 Brazilian TS patients in order to determine the frequency of hidden Y-chromosome mosaicism, and to infer the potential risk of developing malignancies. Additionally, we describe one TS girl with a very uncommon karyotype 46,X,der(X)t(X;Y)(p22.3?2;q11.23) comprising a partial monosomy of Xp22.3?2 together with a partial monosomy of Yq11.23. the presence of cryptic Y-chromosome-specific sequences was detected in 2.7% of the cases. All patients with Y-chromosome-positive sequences showed normal female genitalia with no signs of virilisation. Indeed, the clinical data from Y-chromosome-positive patients was very similar to those with Y-negative results. Therefore, we recommend that the search for hidden Y-chromosome mosaicism should be carried out in all TS cases and not be limited to virilised patients or carriers of a specific karyotype.en
dc.description.affiliationUniv Fed Pernambuco, Dept Genet, BR-50740600 Recife, PE, Brazil
dc.description.affiliationInst Med Integral Prof Fernando Figueira IMIP, Lab Pesquisa Translac Prof C Anthony Hart, BR-50070050 Recife, PE, Brazil
dc.description.affiliationInst Med Integral Prof Fernando Figueira IMIP, Unidade Genet Pediat, BR-50070050 Recife, PE, Brazil
dc.description.affiliationHosp Clin HC UFPE, Unidade Endocrinol Pediat, BR-50740600 Recife, PE, Brazil
dc.description.affiliationHosp Oswaldo Cruz UPE, Ctr Oncohematol Pediat Pernambuco, BR-50100130 Recife, PE, Brazil
dc.description.affiliationUniversidade Federal de São Paulo UNIFESP, Lab Erros Inatos Metab EIM, BR-04021001 São Paulo, Brazil
dc.description.affiliationInst Ciencias Biol, BR-50100130 Recife, PE, Brazil
dc.description.affiliationUniv Jena, Jena Univ Hosp, Inst Human Genet, D-07743 Jena, Germany
dc.description.affiliationUnifespUniversidade Federal de São Paulo UNIFESP, Lab Erros Inatos Metab EIM, BR-04021001 São Paulo, Brazil
dc.description.sourceWeb of Science
dc.description.sponsorshipFundacao de Amparo a Ciencia e Tecnologia do Estado de Pernambuco
dc.description.sponsorshipIDFundacao de Amparo a Ciencia e Tecnologia do Estado de Pernambuco: FACEPE - APQ-0335-2.02/06
dc.format.extent1176-1182
dc.identifierhttp://dx.doi.org/10.1071/RD13207
dc.identifier.citationReproduction Fertility and Development. Collingwood: Csiro Publishing, v. 26, n. 8, p. 1176-1182, 2014.
dc.identifier.doi10.1071/RD13207
dc.identifier.fileWOS000343227400011.pdf
dc.identifier.issn1031-3613
dc.identifier.urihttp://repositorio.unifesp.br/handle/11600/37261
dc.identifier.wosWOS:000343227400011
dc.language.isoeng
dc.publisherCsiro Publishing
dc.relation.ispartofReproduction Fertility and Development
dc.rightsinfo:eu-repo/semantics/restrictedAccess
dc.subjectgonadoblastomaen
dc.subjectX-monosomyen
dc.titleY chromosome in Turner syndrome: detection of hidden mosaicism and the report of a rare X;Y translocation caseen
dc.typeinfo:eu-repo/semantics/article
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