Deletion of the pseudoautosomal region and lack of sex-chromosome pairing at pachytene in two infertile men carrying an X;Y translocation.
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.
Gabriel-Robez
O
O
Institut d'Embryologie, Faculté de Médecine, Strasbourg, France.
Rumpler
Y
Y
Ratomponirina
C
C
Petit
C
C
Levilliers
J
J
Croquette
M F
MF
Couturier
J
J
D015139:Blotting, Southern; D002872:Chromosome Deletion; D005260:Female; D006801:Humans; D007248:Infertility, Male / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D008540:Meiosis; D008854:Microscopy, Electron; D010375:Pedigree; D014178:Translocation, Genetic; D014960:X Chromosome; D014998:Y Chromosome