Determination of the sexual phenotype in a child with 45,X/46,X,Idic(Yp) mosaicism: Importance of the relative proportion of the 45,X line in gonadal tissue

Página do item simplificado
dc.contributor.authorGuedes, Alexis D.
dc.contributor.authorBianco, Bianca
dc.contributor.authorLipay, Monica V. N.
dc.contributor.authorBrunoni, Decio
dc.contributor.authorChauffaille, Maria de Lourdes
dc.contributor.authorVerreschi, Ieda Therezinha do Nascimento [UNIFESP]
dc.contributor.institutionUniversidade Federal de São Paulo (UNIFESP)
dc.contributor.institutionFleury Ctr Diagnost Med
dc.date.accessioned2016-01-24T12:41:26Z
dc.date.available2016-01-24T12:41:26Z
dc.date.issued2006-09-01
dc.description.abstractWe report on a girl who, despite her 45,X/46,X,der(Y) karyotype, showed no signs of virilization or physical signs of the Ullrich-Turner syndrome (UTS), except for a reduced growth rate. After prophylactic gonadectomy due to the risk of developing gonadoblastoma, the gonads and peripheral blood samples were analyzed by fluorescence in situ hybridization (FISH) and polymerase chain reaction (PCR) to detect Y-specific sequences. These analyses allowed Lis to characterize the Y-derived chromosome as being an isodicentric Yp chromosorne (idic(Yp)) and showed a pronounced difference in the distribution of the 45,X/46,X,idic(Yp) mosaicism between the two analyzed tissues. It was shown that, although in peripheral blood almost all cells (97.5%) belonged to the idic(Yp) line with a duplicated SRY gene, this did not determine any degree of male sexual differentiation in the patient, as in the gonads the predominant cell line was 45,X (60%). (c) 2006 Wiley-Liss, Inc.en
dc.description.affiliationUniversidade Federal de São Paulo, Dept Med, Discipline Endocrinol, São Paulo, Brazil
dc.description.affiliationUniversidade Federal de São Paulo, Dept Morphol, Discipline Genet, São Paulo, Brazil
dc.description.affiliationUniversidade Federal de São Paulo, Dept Med, Discipline Hematol, São Paulo, Brazil
dc.description.affiliationFleury Ctr Diagnost Med, São Paulo, Brazil
dc.description.affiliationUnifespUniversidade Federal de São Paulo, Dept Med, Discipline Endocrinol, São Paulo, Brazil
dc.description.affiliationUnifespUniversidade Federal de São Paulo, Dept Morphol, Discipline Genet, São Paulo, Brazil
dc.description.affiliationUnifespUniversidade Federal de São Paulo, Dept Med, Discipline Hematol, São Paulo, Brazil
dc.description.sourceWeb of Science
dc.format.extent1871-1875
dc.identifierhttp://dx.doi.org/10.1002/ajmg.a.31363
dc.identifier.citationAmerican Journal of Medical Genetics Part A. Hoboken: Wiley-liss, v. 140A, n. 17, p. 1871-1875, 2006.
dc.identifier.doi10.1002/ajmg.a.31363
dc.identifier.issn1552-4825
dc.identifier.urihttp://repositorio.unifesp.br/handle/11600/29120
dc.identifier.wosWOS:000240259900011
dc.language.isoeng
dc.publisherWiley-Blackwell
dc.relation.ispartofAmerican Journal of Medical Genetics Part A
dc.rightsinfo:eu-repo/semantics/restrictedAccess
dc.rights.licensehttp://olabout.wiley.com/WileyCDA/Section/id-406071.html
dc.subjectmosaicismen
dc.subjectsex differentiationen
dc.subjectisochromosomesen
dc.subjectY chromosomeen
dc.subjectfluorescence in situ hybridizationen
dc.subjectpolymerase chain reactionen
dc.subjectUllrich-Turner syndromeen
dc.titleDetermination of the sexual phenotype in a child with 45,X/46,X,Idic(Yp) mosaicism: Importance of the relative proportion of the 45,X line in gonadal tissueen
dc.typeinfo:eu-repo/semantics/article
Arquivos
Coleções
Em verificação - Geral