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Absence of Y chromosome microdeletions in patients with cryptorchidism and hypospadias

Authordc.contributor.authorCastro, Andrea 
Authordc.contributor.authorCodner Dujovne, Ethel 
Authordc.contributor.authorKaune, Heidy 
Authordc.contributor.authorLópez, Patricia 
Authordc.contributor.authorVantman, David 
Authordc.contributor.authorCassorla Goluboff, Fernando 
Cita de ítemdc.identifier.citationJournal of Pediatric Endocrinology and Metabolism, Volumen 17, Issue 2, 2018, Pages 143-148
Abstractdc.description.abstractMicrodeletions of the Y chromosome have been observed in some patients with cryptorchidism and severe defects of spermatogenesis. We investigated whether microdeletions of the Y chromosome may be present in patients with cryptorchidism and hypospadias. Peripheral blood was obtained from 20 male patients 5.8 ± 4.1 years (range: 0.4-14 years) with cryptorchidism and hypospadias for somatic DNA analysis of Y chromosome using multiplex polymerase chain reaction. These patients had no identifiable genetic syndrome, other genitourinary malformations or an abnormal karyotype. We evaluated the presence or absence of amplification using a set of 34 different sequence-tagged sites (STS) in each patient. All patients showed normal length amplifications for each of the regions evaluated, suggesting that microdeletions of the Y chromosome are not a frequent cause of hypospadias associated with cryptorchidism. © Freund Publishing House Ltd., London.
Publisherdc.publisherFreund Publishing House Ltd
Type of licensedc.rightsAttribution-NonCommercial-NoDerivs 3.0 Chile
Link to Licensedc.rights.uri
Sourcedc.sourceJournal of Pediatric Endocrinology and Metabolism
Keywordsdc.subjectAmbiguous genitalia
Keywordsdc.subjectY chromosome
Títulodc.titleAbsence of Y chromosome microdeletions in patients with cryptorchidism and hypospadias
Document typedc.typeArtículo de revista
Indexationuchile.indexArtículo de publicación SCOPUS

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Attribution-NonCommercial-NoDerivs 3.0 Chile
Except where otherwise noted, this item's license is described as Attribution-NonCommercial-NoDerivs 3.0 Chile