Publication:
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.departmentTıp Fakültesi
dc.contributor.departmentTıp Fakültesi
dc.contributor.departmentTıp Fakültesi
dc.contributor.departmentTıp Fakültesi
dc.contributor.departmentPediatrik Endokrinoloji Ana Bilim Dalı
dc.contributor.departmentTıbbi Genetik Ana Bilim Dalı
dc.contributor.departmentÇocuk Cerrahisi ve Çocuk Ürolojisi Ana Bilim Dalı
dc.contributor.departmentÇocuk Cerrahisi Ana Bilim Dalı
dc.contributor.orcid0000-0003-0710-5422
dc.contributor.researcheridAAI-3656-2021
dc.contributor.researcheridC-7392-2019
dc.contributor.scopusid7005266570
dc.contributor.scopusid7004109012
dc.contributor.scopusid35612700100
dc.contributor.scopusid6602802424
dc.contributor.scopusid56624750400
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.
dc.identifier.citationKılıç, N. vd. (2005). "Severe hypospadias associated with Robertsonian translocation". Urologia Internationalis, 74(4), 373-376.
dc.identifier.endpage376
dc.identifier.issn0042-1138
dc.identifier.issn1423-0399
dc.identifier.issue4
dc.identifier.pubmed15897709
dc.identifier.scopus2-s2.0-20844442126
dc.identifier.startpage373
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.volume74
dc.identifier.wos000229031300019
dc.indexed.wosSCIE
dc.language.isoen
dc.publisherKarger
dc.relation.journalUrologia Internationalis
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectUrology & nephrology
dc.subjectHypospadias
dc.subjectRobertsonian translocation
dc.subjectAmniocentesis
dc.subjectCarriers
dc.subjectRearrangements
dc.subjectRates
dc.subject.emtreeArticle
dc.subject.emtreeCase report
dc.subject.emtreeChromosome 13q
dc.subject.emtreeChromosome 14q
dc.subject.emtreeChromosome aberration
dc.subject.emtreeClinical feature
dc.subject.emtreeHuman
dc.subject.emtreeHypospadias
dc.subject.emtreeKaryotype
dc.subject.emtreeLow birth weight
dc.subject.emtreeMale
dc.subject.emtreeMale genital system surgery
dc.subject.emtreeMedical examination
dc.subject.emtreePreschool child
dc.subject.emtreePriority journal
dc.subject.emtreeRobertsonian chromosome translocation
dc.subject.emtreeTreatment outcome
dc.subject.meshChild, preschool
dc.subject.meshChromosome aberrations
dc.subject.meshGenetic diseases, inborn
dc.subject.meshGenetic predisposition to disease
dc.subject.meshHumans
dc.subject.meshHypospadias
dc.subject.meshMale
dc.subject.meshTranslocation, genetic
dc.subject.meshTreatment outcome
dc.subject.meshUrogenital abnormalities
dc.subject.meshUrologic surgical procedures, male
dc.subject.scopusRobertsonian Chromosome Translocation; Preimplantation Genetic Diagnosis; Chromosome Aberrations
dc.subject.wosUrology & nephrology
dc.titleSevere hypospadias associated with Robertsonian translocation
dc.typeArticle
dc.wos.quartileQ4
dspace.entity.typePublication
local.contributor.departmentTıp Fakültesi/Çocuk Cerrahisi Ana Bilim Dalı
local.contributor.departmentTıp Fakültesi/Pediatrik Endokrinoloji Ana Bilim Dalı
local.contributor.departmentTıp Fakültesi/Tıbbi Genetik Ana Bilim Dalı
local.contributor.departmentTıp Fakültesi/Çocuk Cerrahisi ve Çocuk Ürolojisi Ana Bilim Dalı
local.indexed.atScopus
local.indexed.atWOS

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