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http://hdl.handle.net/11452/24817
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DC Field | Value | Language |
---|---|---|
dc.date.accessioned | 2022-03-04T05:49:59Z | - |
dc.date.available | 2022-03-04T05:49:59Z | - |
dc.date.issued | 2005 | - |
dc.identifier.citation | Kılıç, N. vd. (2005). "Severe hypospadias associated with Robertsonian translocation". Urologia Internationalis, 74(4), 373-376. | en_US |
dc.identifier.issn | 0042-1138 | - |
dc.identifier.issn | 1423-0399 | - |
dc.identifier.uri | https://doi.org/10.1159/000084443 | - |
dc.identifier.uri | https://www.karger.com/Article/Abstract/84443 | - |
dc.identifier.uri | http://hdl.handle.net/11452/24817 | - |
dc.description.abstract | In 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.language.iso | en | en_US |
dc.publisher | Karger | en_US |
dc.rights | info:eu-repo/semantics/closedAccess | en_US |
dc.subject | Urology & nephrology | en_US |
dc.subject | Hypospadias | en_US |
dc.subject | Robertsonian translocation | en_US |
dc.subject | Amniocentesis | en_US |
dc.subject | Carriers | en_US |
dc.subject | Rearrangements | en_US |
dc.subject | Rates | en_US |
dc.subject.mesh | Child, preschool | en_US |
dc.subject.mesh | Chromosome aberrations | en_US |
dc.subject.mesh | Genetic diseases, inborn | en_US |
dc.subject.mesh | Genetic predisposition to disease | en_US |
dc.subject.mesh | Humans | en_US |
dc.subject.mesh | Hypospadias | en_US |
dc.subject.mesh | Male | en_US |
dc.subject.mesh | Translocation, genetic | en_US |
dc.subject.mesh | Treatment outcome | en_US |
dc.subject.mesh | Urogenital abnormalities | en_US |
dc.subject.mesh | Urologic surgical procedures, male | en_US |
dc.title | Severe hypospadias associated with Robertsonian translocation | en_US |
dc.type | Article | en_US |
dc.identifier.wos | 000229031300019 | tr_TR |
dc.identifier.scopus | 2-s2.0-20844442126 | tr_TR |
dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi | tr_TR |
dc.contributor.department | Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Cerrahisi Anabilim Dalı. | tr_TR |
dc.contributor.department | Uludağ Üniversitesi/Tıp Fakültesi/Pediatrik Endokrinoloji Anabilim Dalı. | tr_TR |
dc.contributor.department | Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı. | tr_TR |
dc.contributor.department | Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Cerrahisi ve Çocuk Ürolojisi Anabilim Dalı. | tr_TR |
dc.contributor.orcid | 0000-0003-0710-5422 | tr_TR |
dc.identifier.startpage | 373 | tr_TR |
dc.identifier.endpage | 376 | tr_TR |
dc.identifier.volume | 74 | tr_TR |
dc.identifier.issue | 4 | tr_TR |
dc.relation.journal | Urologia Internationalis | en_US |
dc.contributor.buuauthor | Kılıç, Nizamettin | - |
dc.contributor.buuauthor | Balkan, Emin | - |
dc.contributor.buuauthor | Sağlam, Halil | - |
dc.contributor.buuauthor | Yakut, Tahsin | - |
dc.contributor.buuauthor | Doǧruyol, Hasan | - |
dc.contributor.researcherid | AAI-3656-2021 | tr_TR |
dc.contributor.researcherid | C-7392-2019 | tr_TR |
dc.identifier.pubmed | 15897709 | tr_TR |
dc.subject.wos | Urology & nephrology | en_US |
dc.indexed.wos | SCIE | en_US |
dc.indexed.scopus | Scopus | en_US |
dc.indexed.pubmed | Pubmed | en_US |
dc.wos.quartile | Q4 | en_US |
dc.contributor.scopusid | 7005266570 | tr_TR |
dc.contributor.scopusid | 7004109012 | tr_TR |
dc.contributor.scopusid | 35612700100 | tr_TR |
dc.contributor.scopusid | 6602802424 | tr_TR |
dc.contributor.scopusid | 56624750400 | tr_TR |
dc.subject.scopus | Robertsonian Chromosome Translocation; Preimplantation Genetic Diagnosis; Chromosome Aberrations | en_US |
dc.subject.emtree | Article | en_US |
dc.subject.emtree | Case report | en_US |
dc.subject.emtree | Chromosome 13q | en_US |
dc.subject.emtree | Chromosome 14q | en_US |
dc.subject.emtree | Chromosome aberration | en_US |
dc.subject.emtree | Clinical feature | en_US |
dc.subject.emtree | Human | en_US |
dc.subject.emtree | Hypospadias | en_US |
dc.subject.emtree | Karyotype | en_US |
dc.subject.emtree | Low birth weight | en_US |
dc.subject.emtree | Male | en_US |
dc.subject.emtree | Male genital system surgery | en_US |
dc.subject.emtree | Medical examination | en_US |
dc.subject.emtree | Preschool child | en_US |
dc.subject.emtree | Priority journal | en_US |
dc.subject.emtree | Robertsonian chromosome translocation | en_US |
dc.subject.emtree | Treatment outcome | en_US |
Appears in Collections: | Scopus Web of Science |
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