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Title: A 45,X sterile male with Yp disguised as 21p
Author: Davalos, I.P.
Rivera, H.
Vasquez, A.I.
Gutierrez-Angulo, M.
Hernandez-Vazquez, M.C.
Cortina-Luna, F.A.
Wong-Ley, L.E.
Dominguez-Quezada, M.G.
Issue Date: 2002
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. © 2002 Wiley-Liss, Inc.
Appears in Collections:Producción científica UdeG (prueba)

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