Abstract

This study was carried out to analyze sex chromosomal constitution in sperm from a 46, XY [60%] / 47, XYY [40] karyotype male and to evaluate the risks of his reproductive genetics. Sperm samples harvested from the mosaic karyotype patient and four healthy male (control group) were assessed using duel-color (specific centremeric probes for X and Y chromosome) fluorescence in situhybridization (FISH) studies. Sex chromosome numerical abnormalities were observed. The ratio of the X-bearing sperm between Y-bearing sperm in both patient and controls was closel to 1:1. The incidence of sex chromosome abnormal combinations (YY, XY and XX) were significantly increased in the patient’s semen sample compared with normal control (0.466 versus 0.10%, p<0.0001; 0.39 versus 0.21%, p<0.001; 1.16 versus 0.09%, p<0.0001, respectively). High risks of chromosome numerical abnormalities of the patient’s offspring and miscarriage rate were suggested from the study. FISH analysis has the potential merits to evaluate the rate of sex chromosome numerical abnormalities on spermatozoa for these karyotyped abnormal patients. Prenatal and genetic diagnoses (PGD) are recommended to increase the likelihood of a successful pregnancy.

Key words: 47, XYY, mosaic, sperm, chromosome numerical abnormalities.