A Case of Ambiguous Genitalia Presenting with a 45,x/46,xr(Y)(P11.2;q11.23)/47,x,idic(Y)(P11.2),idic(Y)(P11.2) Karyotype

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dc.contributor.authorDündar, M.
dc.contributor.authorLowther, G.
dc.contributor.authorAcar, H.
dc.contributor.authorKurtoğlu, S.
dc.contributor.authorDemiryılmaz, F.
dc.contributor.authorKüçükaydın, M.
dc.date.accessioned2020-03-26T16:36:56Z
dc.date.available2020-03-26T16:36:56Z
dc.date.issued2001
dc.departmentSelçuk Üniversitesien_US
dc.description.abstractAn infant with ambiguous genitalia was found to have a karyotype 45,X/46,X,r(Y)(p11.2;q11.23)/47,X, idic(Y)(p11.2),idic(Y)(p11.2) using G-banding, C-banding and FISH. Examination of the genitalia revealed a phallus measuring 1.5 cm in length and 0.5 cm wide with perineal orifice. Subtle phenotypic features consistent with Turner syndrome were not present. Genital ultrasonography revealed the presence of an infantile uterus. Endoscopy of the vagina, uterus and cervix appeared normal.en_US
dc.identifier.citationDündar, M., Lowther, G., Acar, H., Kurtoğlu, S., Demiryılmaz, F., Küçükaydın, M., (2001). A Case of Ambiguous Genitalia Presenting with a 45,x/46,xr(Y)(P11.2;q11.23)/47,x,idic(Y)(P11.2),idic(Y)(P11.2) Karyotype. Annales De Genetique, 44(1), 5-8. DOI: 10.1016/S0003-3995(00)01034-0
dc.identifier.doi10.1016/S0003-3995(00)01034-0en_US
dc.identifier.endpage8en_US
dc.identifier.issn0003-3995en_US
dc.identifier.issue1en_US
dc.identifier.pmid11334610en_US
dc.identifier.scopusqualityN/Aen_US
dc.identifier.startpage5en_US
dc.identifier.urihttps://dx.doi.org/10.1016/S0003-3995(00)01034-0
dc.identifier.urihttps://hdl.handle.net/20.500.12395/17489
dc.identifier.volume44en_US
dc.identifier.wosWOS:000168628600002en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.institutionauthorAcar, H.
dc.language.isoenen_US
dc.publisherEDITIONS SCIENTIFIQUES MEDICALES ELSEVIERen_US
dc.relation.ispartofAnnales De Genetiqueen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.selcuk20240510_oaigen_US
dc.subjectAmbiguous Genitaliaen_US
dc.subjectFishen_US
dc.subjectChromosomal Mosaicismen_US
dc.titleA Case of Ambiguous Genitalia Presenting with a 45,x/46,xr(Y)(P11.2;q11.23)/47,x,idic(Y)(P11.2),idic(Y)(P11.2) Karyotypeen_US
dc.typeArticleen_US

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