F. Morel et al., Segregation of sex chromosomes in spermatozoa of 46,XY/47,XXY men by multicolour fluorescence in-situ hybridization, MOL HUM REP, 6(6), 2000, pp. 566-570
The sex chromosome disomy and diploidy rates on ejaculated spermatozoa from
two patients with mosaic Klinefelter's syndrome were estimated, using X/Y/
15 multicolour fluorescence in-situ hybridization (FISH). A 8/18 dual fluor
escence in-situ hybridization analysis was also carried out. In triple FISH
, a total of 1691 (patient 1) and 811 (patient 2) spermatozoa were analysed
. Frequencies of cells with hyperhaploidies for sex chromosomes were 2.01%
and 3.45% for patients 1 and 2 respectively, with both patients showing a s
ignificantly increased incidence of 24,XY and 24,XX disomies and only patie
nt 2 showing a significantly increased incidence of 24,YY disomy in compari
son to the control (P < 0.001). The 46,XX diploidy rate in patient 4 was al
so significantly higher than the control (P < 0.01). The ratio of X-bearing
to Y-bearing spermatozoa differed from the expected 1:1 ratio for only pat
ient 1 (1.18:1). There was no significant difference for chromosomes 8, 15
or 18 disomy frequencies in comparison to those estimated in the control po
pulation. These results support the hypothesis that some 47,XXY cells are a
ble to go through meiosis and form spermatozoa with an abnormal gonosomal c
omplement. Thus, there is an increased risk, for these 46,XY/ 47,XXY men, o
f producing offspring with a gonosomal abnormality.