Please use this identifier to cite or link to this item: https://hdl.handle.net/20.500.12104/62723
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dc.contributor.authorDavalos, I.P.
dc.contributor.authorRivera, H.
dc.contributor.authorVasquez, A.I.
dc.contributor.authorGutierrez-Angulo, M.
dc.contributor.authorHernandez-Vazquez, M.C.
dc.contributor.authorCortina-Luna, F.A.
dc.contributor.authorWong-Ley, L.E.
dc.contributor.authorDominguez-Quezada, M.G.
dc.date.accessioned2015-11-18T23:43:16Z-
dc.date.available2015-11-18T23:43:16Z-
dc.date.issued2002
dc.identifier.urihttp://hdl.handle.net/20.500.12104/62723-
dc.description.abstractAn azoospermic male was found to have, by means of banding techniques, a 45,X karyotype including a monocentric chromosome 21 with an euchromatic short arm that looked similar to Yp. This rearranged chromosome was further characterized by FISH with a whole Y chromosome paint and the alphoid repeats DYZ3 and D13Z1/D21Z1; the former probe gave a positive signal onto such a peculiar arm without spreading into the long arm, whereas the alphoid repeats revealed an apparent compound centromere with Y- and 21-sequences. Therefore, an unbalanced Y;21 whole arm translocation was concluded and the karyotype written as 45,X.ish der(Y;21)(p10;q10)(wcpY+,DYZ3+, D13Z1/D21Z1+). This patient represents the first case of a Y;21 translocation in an apparent 45,X male, constitutes the fifth instance of a 45,X sterile male, and conforms to previously established karyotype-phenotype correlations. © 2002 Wiley-Liss, Inc.
dc.titleA 45,X sterile male with Yp disguised as 21p
dc.typeArticle
dc.identifier.doi10.1002/ajmg.10536
dc.relation.ispartofjournalAmerican Journal of Medical Genetics
dc.relation.ispartofvolume111
dc.relation.ispartofissue2
dc.relation.ispartofpage202
dc.relation.ispartofpage204
dc.subject.keyword45,X males; Y;21translocations; Y;autosome translocations/Genetics & Heredity
dc.contributor.affiliationDávalos, I.P., División de Genética, Centro de Investigación Biomédica de Occidente, IMSS, Guadalajara, Mexico; Rivera, H., División de Genética, Centro de Investigación Biomédica de Occidente, IMSS, Guadalajara, Mexico, CUCS, Universidad de Guadalajara, Guadalajara, Mexico, División de Genética, Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social, Ap. Postal 1-3838, Guadalajara, Jal., Mexico; Vásquez, A.I., División de Genética, Centro de Investigación Biomédica de Occidente, IMSS, Guadalajara, Mexico; Gutiérrez-Angulo, M., División de Genética, Centro de Investigación Biomédica de Occidente, IMSS, Guadalajara, Mexico, CUCS, Universidad de Guadalajara, Guadalajara, Mexico; Hernández-Vázquez, M.C., Hospital General de Occidente, Secretaría de Salud, Zapopan, Mexico; Cortina-Luna, F.A., Hospital General de Occidente, Secretaría de Salud, Zapopan, Mexico; Wong-Ley, L.E., División de Genética, Centro de Investigación Biomédica de Occidente, IMSS, Guadalajara, Mexico, CUCS, Universidad de Guadalajara, Guadalajara, Mexico; Domínguez-Quezada, M.G., División de Genética, Centro de Investigación Biomédica de Occidente, IMSS, Guadalajara, Mexico
dc.relation.isReferencedByScopus
dc.relation.isReferencedByWOS
dc.identifier.urlhttp://www.scopus.com/inward/record.url?eid=2-s2.0-0037158483&partnerID=40&md5=88b868dda4914eda2d49de8516ea0a26
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