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Human Reproduction, Vol. 17, No. 1, 32-37, January 2002
© 2002 European Society of Human Reproduction and Embryology

Biopsied testis cells of four 47,XXY patients: fluorescence in-situ hybridization and ICSI results

Marianne Bergère1,3, Robert Wainer2, Valérie Nataf1, Marc Bailly2, Myriam Gombault1, Yves Ville2 and Jacqueline Selva1

1 Departments of 1Reproductive Biology and Cytogenetics and 2 Gynecology and Obstetrics, CHI Poissy Saint Germain, 78303 Poissy, Paris-Ouest University, France

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. METHODS AND 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. CONCLUSION: FISH results suggest that only 46,XY cells can undergo meiosis.

Key words: aneuploidy/FISH/ICSI/Klinefelter's syndrome/testis biopsy

3 To whom correspondence should be addressed. E-mail: mabpoissy{at}hotmail.com


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