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Título:	A 45,X sterile male with Yp disguised as 21p Clinical Report
Palabras clave:	45,X males;Y;autosome translocations;21 translocations
Editorial:	American Journal of Medical Genetics.
Descripción:	An 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. División de Genética, Centro de Investigación Biomédica de Occidente, IMSS, Guadalajara, México Doctorado en Genética Humana, CUCS, Universidad de Guadalajara, Guadalajara, México Hospital General de Occidente, Secretarı´a de Salud, Zapopan, México
URI:	https://hdl.handle.net/20.500.12104/72518
Otros identificadores:	Dávalos, I. P., Rivera, H., Vásquez, A. I., Gutiérrez-Angulo, M., Hernández-Vázquez, M. C., Cortina-Luna, F. A., Wong-Ley, L. E. and Domínguez-Quezada, M. G. (2002), A 45,X sterile male with Yp disguised as 21p. Am. J. Med. Genet., 111: 202–204. doi: 10.1002/ajmg.10536 1552-4833 http://repositorio.cualtos.udg.mx:8080/jspui/handle/123456789/312
Aparece en las colecciones:	CUALTOS

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