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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 
Admission datedc.date.accessioned2019-01-29T17:57:12Z
Available datedc.date.available2019-01-29T17:57:12Z
Publication datedc.date.issued2004
Cita de ítemdc.identifier.citationJournal of Pediatric Endocrinology and Metabolism, Volumen 17, Issue 2, 2018, Pages 143-148
Identifierdc.identifier.issn0334018X
Identifierdc.identifier.other10.1515/JPEM.2004.17.2.143
Identifierdc.identifier.urihttp://repositorio.uchile.cl/handle/2250/163956
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.
Lenguagedc.language.isoen
Publisherdc.publisherFreund Publishing House Ltd
Type of licensedc.rightsAttribution-NonCommercial-NoDerivs 3.0 Chile
Link to Licensedc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/3.0/cl/
Sourcedc.sourceJournal of Pediatric Endocrinology and Metabolism
Keywordsdc.subjectAmbiguous genitalia
Keywordsdc.subjectCryptorchidism
Keywordsdc.subjectHypospadias
Keywordsdc.subjectMicrodeletions
Keywordsdc.subjectY chromosome
Títulodc.titleAbsence of Y chromosome microdeletions in patients with cryptorchidism and hypospadias
Document typedc.typeArtículo de revista
Catalogueruchile.catalogadorSCOPUS
Indexationuchile.indexArtículo de publicación SCOPUS
uchile.cosechauchile.cosechaSI


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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