Please use this identifier to cite or link to this item:
http://repositorio.cualtos.udg.mx:8080/jspui/handle/123456789/312
Title: | A 45,X sterile male with Yp disguised as 21p |
Other Titles: | Clinical Report |
Authors: | Dávalos Rodríguez, Ingrid P. Rivera, Horacio Vásquez, Ana I. Gutiérrez Angulo, Melva Hernández Váquez, Martha C. Cortina Luna, Fidel A. Wong Ley, Luis E. Domínguez Quezada, María G. |
Keywords: | 45,X males Y autosome translocations 21 translocations |
Issue Date: | 25-Jul-2002 |
Publisher: | American Journal of Medical Genetics. |
Citation: | 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 |
Series/Report no.: | Am. J. Med. Genet.;Vol. 111: Issue 2; pags. 202–204 DOI;10.1002/ajmg.10536 |
Abstract: | 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. |
URI: | http://repositorio.cualtos.udg.mx:8080/jspui/handle/123456789/312 |
ISSN: | 1552-4833 |
Appears in Collections: | 2409 Artículos |
Files in This Item:
File | Description | Size | Format | |
---|---|---|---|---|
Enlace a_A 45,X sterile male with Yp disguised as 21p.htm | Enlace a publicación | 22.95 kB | HTML | View/Open |
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.