title: Infertile spermatozoa in a human carrier of robertsonian translocation 14;22.
abstract: OBJECTIVE
  To present the ultrastructural, functional, and chromosomal analyses of spermatozoa from an infertile man with normal phenotype and chromosomal translocation 14;22.
  
  
  METHODS
  Case report.
  
  
  METHODS
  Regional Reference Center for Male Infertility in Siena, Italy.
  
  
  METHODS
  A 36-year-old man with primary infertility for 3 years and his parents.
  
  
  METHODS
  Family history and lymphocytic karyotypes, physical and hormonal assays, and semen analysis.
  
  
  METHODS
  Morphological sperm evaluation was performed by light, fluorescent, and electron microscopy; chromosomal constitution was examined by the fluorescence in situ hybridization (FISH) technique. The penetration ability of spermatozoa was checked by the hamster test.
  
  
  RESULTS
  The spermatozoa of the patient showed unusual ultrastructural defects. The nuclei were large, spheroidal, and generally uncondensed; the acrosomes were frequently absent or reduced; and the axonemes were often devoid of dynein arms or central singlet tubules. These characteristics are related to immaturity. The lymphocytic karyotype revealed a robertsonian translocation 14;22 in the sterile patient and his mother. FISH sperm analysis demonstrated a high frequency of diploidy for the chromosome 18,XY. The hamster penetration test gave negative results.
  
  
  CONCLUSIONS
  The unusual structural sperm immaturity is associated with the translocation 14;22. This chromosomal anomaly may therefore negatively influence the spermatogenesis; an interchromosomal effect on meiosis segregation is also suggested.
authors.affiliation: Department of Pediatrics, Obstetrics, and Reproductive Medicine, Section of Biology, University of Siena, Siena, Italy. baccetti@unisi.it
authors.forename: Baccio
authors.initials: B
authors.lastname: Baccetti
authors.forename: Serena
authors.initials: S
authors.lastname: Capitani
authors.forename: Giulia
authors.initials: G
authors.lastname: Collodel
authors.forename: Mariela
authors.initials: M
authors.lastname: Estenoz
authors.forename: Laura
authors.initials: L
authors.lastname: Gambera
authors.forename: Paola
authors.initials: P
authors.lastname: Piomboni
mesh_terms: D000328:Adult; D000818:Animals; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D006224:Cricetinae; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007248:Infertility, Male / Q000235:genetics* / Q000473:pathology*; D008297:Male; D008854:Microscopy, Electron; D013094:Spermatozoa / Q000648:ultrastructure*; D014178:Translocation, Genetic