Achievement of meiosis in XXY germ cells: study of 543 sperm karyotypes from an XY/XXY mosaic patient

Abstract

Human sperm chromosomes from a 46,XY/47,XXY male were obtained using the technique of in vitro penetration of zona-free hamster eggs. The analysis of 543 sperm complements shows a significantly increased incidence (0.9%) of hyperhaploid gonosomal 24,XY sets, with a lack of the expected corresponding gonosomal hypohaploidies, and a normal rate of autosomal non-disjunctions. These results support the suggestion that 47,XXY cells are able to go through meiosis and to form spermatozoa. Only 24,XY sperm chromosomal constitutions were observed suggesting a preferential pairing of homologous sex chromosomes in 47,XXY spermatocytes.

Y chromosome microdeletions in idiopathic azoospermia and non-mosaic type of Klinefelter syndrome

“…The predominate percentage of sex chromosome anomalies among infertile men was attributed to the Klinefelter syndrome (47,XXY), which was the most common karyotypic anomaly to be found among infertile men. Azoospermia is almost the rule in men with Klinefelter syndrome who have the 47,XXY karyotype, although some studies have reported the presence of motile sperm in the ejaculate and testicular sperm in XY/ XXY mosaicism (Cozzi et al, 1994). To avoid the bias, we selected the group of Klinefelter syndrome that is non-mosaic type and azoospermia.…”

Births after Intracytoplasmic Injection of Sperm Obtained by Testicular Extraction from Men with Nonmosaic Klinefelter's Syndrome

“…However, spermatozoa from men with mosaic Klinefelter's syndrome contain an extra sex chromosome more often than do spermatozoa from normal men. 15,16 Therefore, there is a possibility that chromosomal errors will be transmitted to the offspring of men with Klinefelter's syndrome. The normal karyotypes of the three infants described here support previously reported data on the safety of intracytoplasmic sperm injection in the treatment of oligospermia and azoospermia.…”

Prevalence of chromosomal abnormalities in phenotypically normal and fertile adult males: large-scale survey of over 10 000 sperm donor karyotypes

“…Except for two cases of mosaicism involving respectively 25% (4/25) and nearly 30% (17/24) of XXY cells (published by Cozzi et al, 1994), the number of abnormal cells was very low, only two, which makes the reality of these mosaics doubtful. This is in agreement with normal sperm concentrations observed in these men of 50 and 240 × 10 6 /ml.…”