Meiotic products of a Klinefelter 47,XXY male as determined by sperm fluorescence in-situ hybridization analysis

Abstract

The meiotic segregation of 24 spermatozoa obtained from a 47,XXY male is described. Three-colour fluorescence insitu hybridization with probes for chromosomes X, Y and 18 was used. Five spermatozoa carried an X chromosome, seven carried a Y, six had an XY gonosomal complement, five were missing the sex chromosome and one spermatozoon was presumably diploid with an XX/1818 complement. Our results support the hypothesis that XXY cells are able to complete meiosis. In this patient, the percentage of spermatozoa with an abnormal number of sex chromosomes increased from 1/6 (17%) among spermatozoa with normal morphology to 11/18 (61%) in spermatozoa with abnormal morphology.