Human Reproduction, Vol. 16, No. 11, 2274-2277,
November 2001
© 2001 European Society of Human Reproduction and Embryology
Assisting reproduction of infertile men carrying a Robertsonian translocation
1 Service de Génétique et Reproduction, Hôpital Antoine Béclère, Clamart, 2 Département de Génétique, U393, Hôpital Necker Enfants Malades, Paris and 3 Service de Gynécologie Obstétrique, Hôpital Antoine Béclère, Clamart, France.
BACKGROUND: In order to provide better genetic counselling for Robertsonian translocation carriers, the meiotic segregation of chromosomes 13, 14 and 21 from six infertile (13;14) and (14;21) Robertsonian translocation carriers was examined. METHODS: Dual-colour fluorescence in-situ hybridizaion analysis using locus-specific probes was carried out on spermatozoa of translocation carriers. Spermatozoa from six proven fertile subjects were analysed using the same probes as controls. RESULTS: We observed that the frequencies of unbalanced spermatozoa were similar in the (13;14) translocation carriers (9.0, 10.0 and 12.9%) and in the (14;21) translocation carriers (8.7, 7.2 and 7.0%). These frequencies were significantly increased compared with the control population (P < 0.05). CONCLUSIONS: This high frequency might justify the use of preimplantation genetic diagnosis in these patients where the translocation is usually associated with infertility, requiring intracytoplasmic sperm injection, as it might improve the outcome of the assisted reproduction technique.
Key words: FISH/meiotic segregation/Robertsonian translocation/spermatozoa
4 To whom correspondence should be addressed at: Service de Génétique et Reproduction, Hôpital Antoine Béclère 157, rue de la porte de Trivaux 92140 Clamart, France. E-mail: nelly.frydman{at}abc.ap-hop-paris.fr
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