A 45,X sterile male with Yp disguised as 21p.
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.
Dávalos
Ingrid P
IP
División de Genética, Centro de Investigación Biomédica de Occidente, IMSS, Guadalajara, Mexico.
Rivera
Horacio
H
Vásquez
Ana I
AI
Gutiérrez-Angulo
Melva
M
Hernández-Vázquez
Martha C
MC
Cortina-Luna
Fidel A
FA
Wong-Ley
Luis E
LE
Domínguez-Quezada
María G
MG
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