An increased incidence of autosomal aneuploidies in spermatozoa from a patient with Klinefelter's syndrome.
OBJECTIVE
To determine whether there is an increased incidence of autosomal aneuploidies in spermatozoa from a subject with nonmosaic Klinefelter's syndrome.


METHODS
Analysis of sperm nuclei by fluorescence in situ hybridization.


METHODS
Hospital-based laboratory for reproductive biology.


METHODS
A patient with Klinefelter's syndrome and a 46,XY fertile man were analyzed.


METHODS
The sperm samples were prepared for fluorescence in situ hybridization.


METHODS
The disomy frequencies for chromosomes 7, 9, 13, 18, and 21 and sex chromosomes were determined using fluorescence in situ hybridization.


RESULTS
Significant differences were found in the frequency of disomy for chromosomes 13, 18, and 21 between the patient and a normospermic control. No significant differences were observed for chromosomes 7 and 9. The frequencies of gonosomal abnormalities and diploid spermatozoa were also significantly increased in the patient.


CONCLUSIONS
Our results indicate that there is an increased incidence of autosomal aneuploidies for chromosomes 13, 18, and 21 in the spermatozoa from the patient with Klinefelter's syndrome than in the general population. Furthermore, most of the studies have also shown an increased frequency of autosomal aneuploidy in the spermatozoa from 46,XY males with oligozoospermia or oligoasthenoteratozoospermia. Thus, the offspring of the patients with Klinefelter's born by intracytoplasmic sperm injection may be at higher risk of autosomal aneuploidy due to oligoasthenoteratozoospermia.
Morel
Frédéric
F
Laboratoire d'Histologie, Embryologie et Cytogénétique, Faculté de Médecine, Université de Bretagne Occidentale, and Service de Cytogénétique, Cytologie et Biologie de la Reproduction, CHU Morvan, Brest, France. frederic.morel@chubrest.fr
Bernicot
Izabel
I
Herry
Angèle
A
Le Bris
Marie Josée
MJ
Amice
Véronique
V
De Braekeleer
Marc
M
D000328:Adult; D000782:Aneuploidy; D002882:Chromosomes, Human, Pair 13; D002887:Chromosomes, Human, Pair 18; D002891:Chromosomes, Human, Pair 21; D006801:Humans; D007713:Klinefelter Syndrome / Q000235:genetics*; D008297:Male; D012730:Sex Chromosomes; D013094:Spermatozoa / Q000000981:diagnostic imaging*; D014463:Ultrasonography