title: A 45,X sterile male with Yp disguised as 21p.
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.
authors.affiliation: División de Genética, Centro de Investigación Biomédica de Occidente, IMSS, Guadalajara, Mexico.
authors.forename: Ingrid P
authors.initials: IP
authors.lastname: Dávalos
authors.forename: Horacio
authors.initials: H
authors.lastname: Rivera
authors.forename: Ana I
authors.initials: AI
authors.lastname: Vásquez
authors.forename: Melva
authors.initials: M
authors.lastname: Gutiérrez-Angulo
authors.forename: Martha C
authors.initials: MC
authors.lastname: Hernández-Vázquez
authors.forename: Fidel A
authors.initials: FA
authors.lastname: Cortina-Luna
authors.forename: Luis E
authors.initials: LE
authors.lastname: Wong-Ley
authors.forename: María G
authors.initials: MG
authors.lastname: Domínguez-Quezada
mesh_terms: D000328:Adult; D002503:Centromere; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics*; D041321:Chromosomes, Human, X / Q000235:genetics*; D041322:Chromosomes, Human, Y / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007248:Infertility, Male / Q000235:genetics; D007621:Karyotyping; D008297:Male; D009845:Oligospermia / Q000235:genetics*; D010641:Phenotype; D012729:Sex Chromosome Aberrations; D014178:Translocation, Genetic