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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
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
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.
ISSN: 1552-4833
Appears in Collections:2409 Artículos

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