2022-03-042022-03-042005Kılıç, N. vd. (2005). "Severe hypospadias associated with Robertsonian translocation". Urologia Internationalis, 74(4), 373-376.0042-11381423-0399https://doi.org/10.1159/000084443https://www.karger.com/Article/Abstract/84443http://hdl.handle.net/11452/24817In 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.eninfo:eu-repo/semantics/closedAccessUrology & nephrologyHypospadiasRobertsonian translocationAmniocentesisCarriersRearrangementsRatesChild, preschoolChromosome aberrationsGenetic diseases, inbornGenetic predisposition to diseaseHumansHypospadiasMaleTranslocation, geneticTreatment outcomeUrogenital abnormalitiesUrologic surgical procedures, maleArticle0002290313000192-s2.0-2084444212637337674415897709Urology & nephrologyRobertsonian Chromosome Translocation; Preimplantation Genetic Diagnosis; Chromosome AberrationsArticleCase reportChromosome 13qChromosome 14qChromosome aberrationClinical featureHumanHypospadiasKaryotypeLow birth weightMaleMale genital system surgeryMedical examinationPreschool childPriority journalRobertsonian chromosome translocationTreatment outcome