title: Severe hypospadias associated with Robertsonian translocation.
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.
authors.affiliation: Department of Pediatric Surgery, Medical Faculty, Uludag University, Bursa, Turkey. nizam@uludag.edu.tr
authors.forename: Nizamettin
authors.initials: N
authors.lastname: Kilic
authors.forename: Emin
authors.initials: E
authors.lastname: Balkan
authors.forename: Halil
authors.initials: H
authors.lastname: Saglam
authors.forename: Tahsin
authors.initials: T
authors.lastname: Yakut
authors.forename: Hasan
authors.initials: H
authors.lastname: Dogruyol
mesh_terms: D002675:Child, Preschool; D002869:Chromosome Aberrations; D030342:Genetic Diseases, Inborn / Q000150:complications / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006801:Humans; D007021:Hypospadias / Q000150:complications / Q000235:genetics* / Q000601:surgery; D008297:Male; D014178:Translocation, Genetic / Q000235:genetics*; D016896:Treatment Outcome; D014564:Urogenital Abnormalities / Q000150:complications / Q000235:genetics* / Q000601:surgery; D013521:Urologic Surgical Procedures, Male