Reproductive genetic counselling in non‐mosaic 47,XXY patients: implications for preimplantation or prenatal diagnosis: Case report and review

• Published in: Human reproduction (Oxford) Vol. 18; no. 2; pp. 271 - 275
• Main Authors: Tachdjian, Gérard, Frydman, Nelly, Morichon‐Delvallez, Nicole, Dû, Anne Le, Fanchin, Renato, Vekemans, Michel, Frydman, René
• Format: Journal Article
• Language: English
• Published: Oxford Oxford University Press 01.02.2003; Oxford Publishing Limited (England)
• Subjects: Adult; Biological and medical sciences; Birth control; Chromosome aberrations; Genetic Counseling; Gynecology. Andrology. Obstetrics; Humans; Key words: 47; Male; Medical genetics; Medical sciences; Preimplantation Diagnosis; Prenatal Diagnosis; Sex Chromosome Disorders - diagnosis; Sex Chromosome Disorders - genetics; Sterility. Assisted procreation; XXY/genetic counselling/preimplantation/prenatal/reproduction; 47,XXY/genetic counselling/preimplantation/prenatal/reproduction; Chromosomal aberration; Endocrinopathy; Human; Klinefelter syndrome; Intracytoplasmic sperm injection; Assisted procreation; Aneuploidy; Sexual differentiation disorder; Supernumerary X chromosome; Review; Hypogonadism; Case study; Prenatal; Preimplantation diagnosis; Reproduction; Genetic counseling; Malformation; Male genital diseases
• ISSN: 0268-1161; 1460-2350; 1460-2350
• DOI: 10.1093/humrep/deg070

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.