Role of the pseudoautosomal region in sex-chromosome pairing during male meiosis: meiotic studies in a man with a deletion of distal Xp.

摘要: Meiotic studies were undertaken in a 24-year-old male patient with short stature, chondrodysplasia punctata, ichthyosis, steroid sulfatase deficiency, and mild mental retardation an inherited cytologically visible deletion of distal Xp. Molecular investigations showed that the pseudoautosomal region as well gene deleted, but telomeric sequences present at pter on deleted X chromosome. A complete failure sex-chromosome pairing was observed primary spermatocytes patient. Telomeric approaches between sex chromosomes made zygotene some cells, XY synaptonemal complex formed. The univalents metaphase I, germ-cell development arrested I II vast majority consistent azoospermia this individual indicates play important role initiating formation meiosis. 36 refs., 6 figs.