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|Title:||A 45,X sterile male with Yp disguised as 21p|
|Other Titles:||Clinical Report|
|Authors:||Dávalos Rodríguez, Ingrid P.|
Vásquez, Ana I.
Gutiérrez Angulo, Melva
Hernández Váquez, Martha C.
Cortina Luna, Fidel A.
Wong Ley, Luis E.
Domínguez Quezada, María G.
|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|
|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.|
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