Severe hypospadias associated with Robertsonian translocation

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Severe hypospadias associated with Robertsonian translocation

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.department	Tıp Fakültesi
dc.contributor.department	Pediatrik Endokrinoloji Ana Bilim Dalı
dc.contributor.department	Tıbbi Genetik Ana Bilim Dalı
dc.contributor.department	Çocuk Cerrahisi Ana Bilim Dalı
dc.contributor.orcid	0000-0003-0710-5422
dc.contributor.researcherid	AAI-3656-2021
dc.contributor.researcherid	C-7392-2019
dc.contributor.scopusid	7005266570
dc.contributor.scopusid	7004109012
dc.contributor.scopusid	35612700100
dc.contributor.scopusid	6602802424
dc.contributor.scopusid	56624750400
dc.date.accessioned	2022-03-04T05:49:59Z
dc.date.available	2022-03-04T05:49:59Z
dc.date.issued	2005
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.
dc.identifier.citation	Kılıç, N. vd. (2005). "Severe hypospadias associated with Robertsonian translocation". Urologia Internationalis, 74(4), 373-376.
dc.identifier.doi	10.1159/000084443
dc.identifier.endpage	376
dc.identifier.issn	0042-1138
dc.identifier.issn	1423-0399
dc.identifier.issue	4
dc.identifier.pubmed	15897709
dc.identifier.scopus	2-s2.0-20844442126
dc.identifier.startpage	373
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.identifier.volume	74
dc.identifier.wos	000229031300019
dc.indexed.wos	SCIE
dc.language.iso	en
dc.publisher	Karger
dc.relation.journal	Urologia Internationalis
dc.relation.publicationcategory	Makale - Uluslararası Hakemli Dergi
dc.rights	info:eu-repo/semantics/closedAccess
dc.subject	Urology & nephrology
dc.subject	Hypospadias
dc.subject	Robertsonian translocation
dc.subject	Amniocentesis
dc.subject	Carriers
dc.subject	Rearrangements
dc.subject	Rates
dc.subject.emtree	Article
dc.subject.emtree	Case report
dc.subject.emtree	Chromosome 13q
dc.subject.emtree	Chromosome 14q
dc.subject.emtree	Chromosome aberration
dc.subject.emtree	Clinical feature
dc.subject.emtree	Human
dc.subject.emtree	Hypospadias
dc.subject.emtree	Karyotype
dc.subject.emtree	Low birth weight
dc.subject.emtree	Male
dc.subject.emtree	Male genital system surgery
dc.subject.emtree	Medical examination
dc.subject.emtree	Preschool child
dc.subject.emtree	Priority journal
dc.subject.emtree	Robertsonian chromosome translocation
dc.subject.emtree	Treatment outcome
dc.subject.mesh	Child, preschool
dc.subject.mesh	Chromosome aberrations
dc.subject.mesh	Genetic diseases, inborn
dc.subject.mesh	Genetic predisposition to disease
dc.subject.mesh	Humans
dc.subject.mesh	Hypospadias
dc.subject.mesh	Male
dc.subject.mesh	Translocation, genetic
dc.subject.mesh	Treatment outcome
dc.subject.mesh	Urogenital abnormalities
dc.subject.mesh	Urologic surgical procedures, male
dc.subject.scopus	Robertsonian Chromosome Translocation; Preimplantation Genetic Diagnosis; Chromosome Aberrations
dc.subject.wos	Urology & nephrology
dc.title	Severe hypospadias associated with Robertsonian translocation
dc.type	Article
dc.wos.quartile	Q4
dspace.entity.type	Publication
local.contributor.department	Tıp Fakültesi/Çocuk Cerrahisi Ana Bilim Dalı
local.contributor.department	Tıp Fakültesi/Pediatrik Endokrinoloji Ana Bilim Dalı
local.contributor.department	Tıp Fakültesi/Tıbbi Genetik Ana Bilim Dalı
local.indexed.at	PubMed
local.indexed.at	Scopus
local.indexed.at	WOS