title: Reproductive genetic counselling in non-mosaic 47,XXY patients: implications for preimplantation or prenatal diagnosis: Case report and review.
abstract: With an incidence of approximately 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.
authors.affiliation: Service de Biologie et Génétique de la Reproduction, Hôpital Antoine Béclère, Clamart, France. gerard.tachdjian@abc.ap-hop-paris.fr
authors.forename: Gérard
authors.initials: G
authors.lastname: Tachdjian
authors.forename: Nelly
authors.initials: N
authors.lastname: Frydman
authors.forename: Nicole
authors.initials: N
authors.lastname: Morichon-Delvallez
authors.forename: Anne Le
authors.initials: AL
authors.lastname: Dû
authors.forename: Renato
authors.initials: R
authors.lastname: Fanchin
authors.forename: Michel
authors.initials: M
authors.lastname: Vekemans
authors.forename: René
authors.initials: R
authors.lastname: Frydman
mesh_terms: D000328:Adult; D005817:Genetic Counseling; D006801:Humans; D008297:Male; D019836:Preimplantation Diagnosis; D011296:Prenatal Diagnosis; D025064:Sex Chromosome Disorders / Q000175:diagnosis / Q000235:genetics*