Infertility and multiple urogenital abnormalities in a male with mosaic 46,XY/45,XO/47,XXY karyotype and mixed phenotype

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dc.contributor.authorFiliadis, I. F.en
dc.contributor.authorSyrrou, M. B.en
dc.contributor.authorBai, M. C.en
dc.contributor.authorGeorgiou, I. A.en
dc.contributor.authorPagoulatos, G. N.en
dc.contributor.authorGiannakopoulos, X.en
dc.date.accessioned2015-11-24T19:10:13Z
dc.date.available2015-11-24T19:10:13Z
dc.identifier.issn0042-1138-
dc.identifier.urihttps://olympias.lib.uoi.gr/jspui/handle/123456789/20804
dc.rightsDefault Licence-
dc.subject*Abnormalities, Multipleen
dc.subjectCell Lineen
dc.subjectFollow-Up Studiesen
dc.subjectGonadal Dysgenesis, 46,XY/*genetics/pathology/radiographyen
dc.subjectHumansen
dc.subjectIn Situ Hybridization, Fluorescenceen
dc.subjectInfertility, Male/genetics/pathology/radiographyen
dc.subjectKaryotypingen
dc.subjectKlinefelter Syndrome/*genetics/pathology/radiographyen
dc.subjectMaleen
dc.subjectMiddle Ageden
dc.subjectMosaicism/*geneticsen
dc.subjectNoonan Syndrome/*genetics/pathology/radiographyen
dc.subjectPhenotypeen
dc.subjectSex Chromosome Aberrations/*geneticsen
dc.subjectSex Chromosomesen
dc.subjectUrinary Calculi/diagnosis/therapyen
dc.subjectUrogenital Abnormalities/*genetics/pathology/radiographyen
dc.subjectUrographyen
dc.titleInfertility and multiple urogenital abnormalities in a male with mosaic 46,XY/45,XO/47,XXY karyotype and mixed phenotypeen
heal.abstractWe hereby present a rare case of a 46,XY/45,XO/47,XXY mosaic male patient with a predominance of the XY cell line. The patient, who exhibited phenotypic stigmata of both XO gonadal dysgenesis and Klinefelter syndromes, suffered from infertility and multiple urogenital abnormalities, as our investigation revealed.en
heal.accesscampus-
heal.fullTextAvailabilityTRUE-
heal.identifier.secondaryhttp://www.ncbi.nlm.nih.gov/pubmed/9873251-
heal.identifier.secondaryhttp://content.karger.com/ProdukteDB/produkte.asp?Aktion=ShowPDF&ArtikelNr=000030299&Ausgabe=226637&ProduktNr=224282&filename=000030299.pdf-
heal.journalNameUrol Inten
heal.journalTypepeer-reviewed-
heal.languageen-
heal.publicationDate1998-
heal.recordProviderΠανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών Υγείας. Τμήμα Ιατρικήςel
heal.typejournalArticle-
heal.type.elΆρθρο Περιοδικούel
heal.type.enJournal articleen

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