Severe hypospadias associated with Robertsonian translocation

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dc.contributor.buuauthorKılıç, Nizamettin
dc.contributor.buuauthorBalkan, Emin
dc.contributor.buuauthorSağlam, Halil
dc.contributor.buuauthorYakut, Tahsin
dc.contributor.buuauthorDoǧruyol, Hasan
dc.contributor.departmentUludağ Üniversitesi/Tıp Fakültesi/Çocuk Cerrahisi Anabilim Dalı.tr_TR
dc.contributor.departmentUludağ Üniversitesi/Tıp Fakültesi/Pediatrik Endokrinoloji Anabilim Dalı.tr_TR
dc.contributor.departmentUludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.tr_TR
dc.contributor.departmentUludağ Üniversitesi/Tıp Fakültesi/Çocuk Cerrahisi ve Çocuk Ürolojisi Anabilim Dalı.tr_TR
dc.contributor.orcid0000-0003-0710-5422tr_TR
dc.contributor.researcheridAAI-3656-2021tr_TR
dc.contributor.researcheridC-7392-2019tr_TR
dc.contributor.scopusid7005266570tr_TR
dc.contributor.scopusid7004109012tr_TR
dc.contributor.scopusid35612700100tr_TR
dc.contributor.scopusid6602802424tr_TR
dc.contributor.scopusid56624750400tr_TR
dc.date.accessioned2022-03-04T05:49:59Z
dc.date.available2022-03-04T05:49:59Z
dc.date.issued2005
dc.description.abstractIn this study, we report a 3-year-old boy with severe scrotal hypospadias with Robertsonian translocation [45, XY, t(13q;14q)]. The patient was born at term with a low birth weight and hypospadias. There was no endocrinological abnormality. His father also has a balanced 13-14 Robertsonian translocation. Two-stage hypospadias repair was carried out. The presence of this chromosomal anomaly and hypospadias are unique to our patient, compared to others with the 45, XY, t( 13q; 14q) translocation. Although no such association has been reported so far, we thought that severe hypospadias in this case might be associated with this translocation.en_US
dc.identifier.citationKılıç, N. vd. (2005). "Severe hypospadias associated with Robertsonian translocation". Urologia Internationalis, 74(4), 373-376.en_US
dc.identifier.endpage376tr_TR
dc.identifier.issn0042-1138
dc.identifier.issn1423-0399
dc.identifier.issue4tr_TR
dc.identifier.pubmed15897709tr_TR
dc.identifier.scopus2-s2.0-20844442126tr_TR
dc.identifier.startpage373tr_TR
dc.identifier.urihttps://doi.org/10.1159/000084443
dc.identifier.urihttps://www.karger.com/Article/Abstract/84443
dc.identifier.urihttp://hdl.handle.net/11452/24817
dc.identifier.volume74tr_TR
dc.identifier.wos000229031300019tr_TR
dc.indexed.pubmedPubmeden_US
dc.indexed.scopusScopusen_US
dc.indexed.wosSCIEen_US
dc.language.isoenen_US
dc.publisherKargeren_US
dc.relation.journalUrologia Internationalisen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergitr_TR
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectUrology & nephrologyen_US
dc.subjectHypospadiasen_US
dc.subjectRobertsonian translocationen_US
dc.subjectAmniocentesisen_US
dc.subjectCarriersen_US
dc.subjectRearrangementsen_US
dc.subjectRatesen_US
dc.subject.emtreeArticleen_US
dc.subject.emtreeCase reporten_US
dc.subject.emtreeChromosome 13qen_US
dc.subject.emtreeChromosome 14qen_US
dc.subject.emtreeChromosome aberrationen_US
dc.subject.emtreeClinical featureen_US
dc.subject.emtreeHumanen_US
dc.subject.emtreeHypospadiasen_US
dc.subject.emtreeKaryotypeen_US
dc.subject.emtreeLow birth weighten_US
dc.subject.emtreeMaleen_US
dc.subject.emtreeMale genital system surgeryen_US
dc.subject.emtreeMedical examinationen_US
dc.subject.emtreePreschool childen_US
dc.subject.emtreePriority journalen_US
dc.subject.emtreeRobertsonian chromosome translocationen_US
dc.subject.emtreeTreatment outcomeen_US
dc.subject.meshChild, preschoolen_US
dc.subject.meshChromosome aberrationsen_US
dc.subject.meshGenetic diseases, inbornen_US
dc.subject.meshGenetic predisposition to diseaseen_US
dc.subject.meshHumansen_US
dc.subject.meshHypospadiasen_US
dc.subject.meshMaleen_US
dc.subject.meshTranslocation, geneticen_US
dc.subject.meshTreatment outcomeen_US
dc.subject.meshUrogenital abnormalitiesen_US
dc.subject.meshUrologic surgical procedures, maleen_US
dc.subject.scopusRobertsonian Chromosome Translocation; Preimplantation Genetic Diagnosis; Chromosome Aberrationsen_US
dc.subject.wosUrology & nephrologyen_US
dc.titleSevere hypospadias associated with Robertsonian translocationen_US
dc.typeArticle
dc.wos.quartileQ4en_US

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