A 45,X sterile male with Yp disguised as 21p
Clinical Report
| dc.creator | Dávalos Rodríguez, Ingrid P. | |
| dc.creator | Rivera, Horacio | |
| dc.creator | Vásquez, Ana I. | |
| dc.creator | Gutiérrez Angulo, Melva | |
| dc.creator | Hernández Váquez, Martha C. | |
| dc.creator | Cortina Luna, Fidel A. | |
| dc.creator | Wong Ley, Luis E. | |
| dc.creator | Domínguez Quezada, María G. | |
| dc.date | 2015-06-25T16:06:52Z | |
| dc.date | 2015-06-25T16:06:52Z | |
| dc.date | 2002-07-25 | |
| dc.date.accessioned | 2023-07-21T21:39:11Z | |
| dc.date.available | 2023-07-21T21:39:11Z | |
| dc.identifier | 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 | |
| dc.identifier | 1552-4833 | |
| dc.identifier | http://repositorio.cualtos.udg.mx:8080/jspui/handle/123456789/312 | |
| dc.identifier.uri | https://repositorioslatinoamericanos.uchile.cl/handle/2250/7752003 | |
| dc.description | 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. | |
| dc.description | 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 | |
| dc.language | en | |
| dc.publisher | American Journal of Medical Genetics. | |
| dc.relation | Am. J. Med. Genet.;Vol. 111: Issue 2; pags. 202–204 | |
| dc.relation | DOI;10.1002/ajmg.10536 | |
| dc.subject | 45,X males | |
| dc.subject | Y | |
| dc.subject | autosome translocations | |
| dc.subject | 21 translocations | |
| dc.title | A 45,X sterile male with Yp disguised as 21p | |
| dc.title | Clinical Report | |
| dc.type | Article |