Increased incidence of hyperhaploid 24,XY spermatozoa detected by three-colour FISH in a 46,XY/47,XXY male.
Meiotic segregation of gonosomes from a 46,XY/47,XXY male was analysed by a three-colour fluorescence in situ hybridisation (FISH) procedure. This method allows the identification of hyperhaploid spermatozoa (with 24 chromosomes), diploid spermatozoa (with 46 chromosomes) and their meiotic origin (meiosis I or II). Alpha satellite DNA probes specific for chromosomes X, Y and 1 were observed on 27,097 sperm nuclei. The proportions of X- and Y-bearing sperm were estimated to 52.78% and 43.88%, respectively. Disomy (24,XX, 24,YY, 24,X or Y,+1) and diploidy (46,XX, 46,YY, 46,XY) frequencies were close to those obtained from control sperm, whereas the frequency of hyperhaploid 24,XY spermatozoa (2.09%) was significantly increased compared with controls (0.36%). These results support the hypothesis that a few 47,XXY germ cells would be able to complete meiosis and to produce mature spermatozoa.
Chevret
E
E
Reproductive Biology Unit, DyOGen Laboratory, Albert Bonniot Institute, Grenoble University Medical School, La Tronche, France.
Rousseaux
S
S
Monteil
M
M
Usson
Y
Y
Cozzi
J
J
Pelletier
R
R
Sèle
B
B
D000328:Adult; D002878:Chromosomes, Human, Pair 1; D015342:DNA Probes; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D007713:Klinefelter Syndrome / Q000235:genetics*; D008297:Male; D008540:Meiosis / Q000235:genetics*; D009030:Mosaicism / Q000235:genetics*; D012730:Sex Chromosomes; D013094:Spermatozoa
D015342:DNA Probes