title: Biopsied testis cells of four 47,XXY patients: fluorescence in-situ hybridization and ICSI results.
abstract: BACKGROUND
  A testis biopsy was performed for four non-mosaic 47,XXY azoospermic patients. Spermatozoa were found in three cases and frozen before ICSI. We analysed the various cells found in the four samples by multicolour fluorescence in-situ hybridization (FISH), to evaluate the meiosis and spermatogenesis possibilities of the 47,XXY and 46,XY testis cell lines, and to estimate aneuploidy rate in the resulting spermatids and spermatozoa.
  
  
  RESULTS
  Testis diploid cells (either somatic or premeiotic), meiotic, and post-meiotic haploid germ cells were hybridized with probes for chromosomes X, Y and 18. The only patient with no spermatozoa had a homogeneous diploid XXY constitution in the testis; the three other patients presented two cell populations (46,XY and 47,XXY) among their diploid testis cells. All the observed pachytene figures were XY; no XXY pachytene figure was found. The aneuploidy rate among post-meiotic cells for chromosomes X,Y and 18 was 6.75% (5/74). This rate was 1.5% (2/133) for control. Three couples underwent ICSI; four attempts were made, one healthy baby was born.
  
  
  CONCLUSIONS
  FISH results suggest that only 46,XY cells can undergo meiosis.
authors.affiliation: Department of Reproductive Biology and Cytogenetics, CHI Poissy Saint Germain, 78303 Poissy, Paris-Ouest University, France. mabpoissy@hotmail.com
authors.forename: Marianne
authors.initials: M
authors.lastname: Bergère
authors.forename: Robert
authors.initials: R
authors.lastname: Wainer
authors.forename: Valérie
authors.initials: V
authors.lastname: Nataf
authors.forename: Marc
authors.initials: M
authors.lastname: Bailly
authors.forename: Myriam
authors.initials: M
authors.lastname: Gombault
authors.forename: Yves
authors.initials: Y
authors.lastname: Ville
authors.forename: Jacqueline
authors.initials: J
authors.lastname: Selva
mesh_terms: D000782:Aneuploidy; D001706:Biopsy; D002887:Chromosomes, Human, Pair 18; D006238:Haploidy; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D007713:Klinefelter Syndrome / Q000235:genetics*; D008297:Male; D008540:Meiosis; D009845:Oligospermia / Q000235:genetics / Q000473:pathology; D020554:Sperm Injections, Intracytoplasmic; D013091:Spermatogenesis; D013737:Testis / Q000473:pathology*; D014960:X Chromosome; D014998:Y Chromosome