Deletion of the pseudoautosomal region and lack of sex-chromosome pairing at pachytene in two infertile men carrying an X;Y translocation

O Gabriel-Robez; Y Rumpler; C Ratomponirina; C Petit; J Levilliers; M F Croquette; J Couturier

doi:10.1159/000132951

Deletion of the pseudoautosomal region and lack of sex-chromosome pairing at pachytene in two infertile men carrying an X;Y translocation

Cytogenet Cell Genet. 1990;54(1-2):38-42. doi: 10.1159/000132951.

Authors

O Gabriel-Robez¹, Y Rumpler, C Ratomponirina, C Petit, J Levilliers, M F Croquette, J Couturier

Affiliation

¹ Institut d'Embryologie, Faculté de Médecine, Strasbourg, France.

PMID: 2249473
DOI: 10.1159/000132951

Abstract

Two males with a 46,Y,der(X),t(X;Y)(p22.3;q11) complement were referred independently for evaluation of sterility with azoospermia. Both patients exhibited minimal symptomatology, characterized only by psychological disturbances. Study of X-chromosome breakpoints with pseudoautosomal probes 68B (DXYZ2 elements), 113D (locus DXYS15), and 19B (locus MIC2) indicated in both patients that at least 97% of the X pseudoautosomal sequences are lost. Hybridization with Xp22.3-specific probes DXS283, DXS284, and DXS31 shows that these loci are retained on the rearranged chromosome. Thus, the X-chromosome breakpoints are located close to the proximal boundary of the pseudoautosomal region, between MIC2 and DXS284.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Blotting, Southern
Chromosome Deletion*
Female
Humans
Infertility, Male / genetics*
Karyotyping
Male
Meiosis
Microscopy, Electron
Pedigree
Translocation, Genetic*
X Chromosome*
Y Chromosome*