title: A human tetraploid pachytene spermatocyte as the possible origin of diploid sperm: a case report.
abstract: Diploid spermatozoa represent 0.2-0.3% of all spermatozoa in the normal population and cause 8.3% of diandric triploids. Errors in meiosis I and II are the most common mechanisms by which diploid spermatozoa are produced. Endoreduplication before meiosis has been suggested as a possible origin for tetraploid meiocytes, which might, in turn, produce diploid sperm. Synaptonemal complex (SC) spreads of a fertile man were immunolabelled (SCP3, MLH1 and CENP) and hybridized with subtelomere-specific multiplex fluorescent in situ hybridization (stM-FISH) assay for SCs identification. The unexpected finding of a tetraploid pachytene cell and the identification of all of its SCs demonstrate that synapsis and crossover events can occur in human tetraploid cells. Moreover, it indicates that diploid sperm may also originate from mitotic errors (endoreduplication) occurring before meiosis.
authors.affiliation: Unitat de Biologia Cellular i Genètica Mèdica, Facultat de Medicina, Universitat Autònoma de Barcelona, Bellaterra, Spain. montserrat.codina@uab.es
authors.forename: M
authors.initials: M
authors.lastname: Codina-Pascual
authors.forename: J
authors.initials: J
authors.lastname: Navarro
authors.forename: J
authors.initials: J
authors.lastname: Egozcue
authors.forename: J
authors.initials: J
authors.lastname: Benet
mesh_terms: D000782:Aneuploidy; D004171:Diploidy; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D049471:Pachytene Stage / Q000235:genetics*; D013094:Spermatozoa / Q000002:abnormalities*