title: Ultrastructural studies of spermatozoa from infertile males with Robertsonian translocations and 18, X, Y aneuploidies.
abstract: BACKGROUND
  In order to clarify the relationship between chromosomal rearrangements, sperm morphology and interchromosomal effects (ICE), we studied the spermatogenetic defects in seven infertile Robertsonian translocation carriers.
  
  
  METHODS
  Lymphocyte karyotypes were evaluated using Giemsa-Trypsin-Giemsa banding and fluorescence in-situ hybridization (FISH). Semen analysis was performed by light and transmission electron microscopy. FISH of sperm nuclei was carried out to detect possible ICE.
  
  
  RESULTS
  Lymphocyte karyotype analysis revealed five t(13;14), one t(13;21) and one t(14;22) carriers. Sperm ultrastructural examination highlighted a higher percentage of immaturity, apoptosis and necrosis than in controls. Aneuploidies of gonosomes were detected in sperm from five out of six carriers of Robertsonian translocation, whereas aneuploidy of chromosome 18 was evident in three out of six carriers. The frequencies of diploidy were altered in all cases.
  
  
  CONCLUSIONS
  Since these infertile patients showed severe spermatogenetic impairment from the morphological and meiotic points of view, we recommend detailed sperm ultrastructural and chromosomal analysis before undertaking ICSI cycles in Robertsonian translocation carriers.
authors.affiliation: Department of Pediatrics, Obstetrics and Reproductive Medicine, Section of Biology, Siena University, Regional Referral Center for Male Infertility, Azienda Ospedaliera Universitaria Senese, Siena, Italy. baccetti@unisi.it
authors.forename: B
authors.initials: B
authors.lastname: Baccetti
authors.forename: G
authors.initials: G
authors.lastname: Collodel
authors.forename: R
authors.initials: R
authors.lastname: Marzella
authors.forename: E
authors.initials: E
authors.lastname: Moretti
authors.forename: P
authors.initials: P
authors.lastname: Piomboni
authors.forename: G
authors.initials: G
authors.lastname: Scapigliati
authors.forename: F
authors.initials: F
authors.lastname: Serafini
mesh_terms: D000328:Adult; D000782:Aneuploidy; D002887:Chromosomes, Human, Pair 18; D041321:Chromosomes, Human, X; D041322:Chromosomes, Human, Y; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007248:Infertility, Male / Q000235:genetics* / Q000473:pathology*; D008297:Male; D008875:Middle Aged; D013094:Spermatozoa / Q000473:pathology* / Q000648:ultrastructure; D014178:Translocation, Genetic