Human Reproduction, Vol. 18, No. 2, 271-275,
February 2003
© 2003 European Society of Human Reproduction and Embryology
Reproductive genetic counselling in non-mosaic 47,XXY patients: implications for preimplantation or prenatal diagnosis: Case report and review
1 Service de Biologie et Génétique de la Reproduction, Hôpital Antoine Béclère, Clamart, 2 Département de Génétique, Hôpital Necker Enfants Malades, Paris and 3 Service de Gynécologie Obstétrique, Hôpital Antoine Béclère, Clamart, France
4 To whom correspondence should be addressed at: Service de Biologie et Génétique de la Reproduction, Hôpital Antoine Béclère, 157, rue de la Porte de Trivaux, 92140 Clamart, France. e-mail: gerard.tachdjian{at}abc.ap-hop-paris.fr
With an incidence of 
1 in 500 male newborns, the 47,XXY genotype is one the most common sex chromosome anomalies. It is also the most frequent genetic cause of human infertility. Some non-mosaic 47,XXY patients have sperm production which allows infertility treatment to be offered by ICSI. Therefore, the risk of transmitting a chromosome anomaly to the next generation is an important problem in reproductive genetic counselling of these patients. Here, we report on a twin pregnancy where two karyotypically normal neonates 46,XX and 46,XY were born after the use of ICSI in assisted reproduction of a patient with a non-mosaic 47,XXY syndrome. To date, only 38 evolving pregnancies including the present cases, have been reported after ICSI using sperm from non-mosaic 47,XXY patients. Although these data are scarce, they suggest that the risk of chromosome anomaly in the offspring of these patients is low; hence, their reproductive genetic counselling can be reassuring, and management of the pregnancy can proceed with caution.
Key words: 47,XXY/genetic counselling/preimplantation/prenatal/reproduction
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