PROBLEM: The objective of this study was to evaluate the contribution of ch
romosomal anomalies to decreased fertility in humans.
METHOD OF STUDY: In order to investigate the aetiology of infertility in ou
r population and to assess the karyotype in a group of infertile couples an
d individuals with fertility problems, 782 persons (259 couples, 158 male a
nd 106 Female) with different clinical diagnoses of sterility and infertili
ty were analysed cytogenetically.
RESULTS: The overall frequency of major chromosomal aberration was 13.1% (1
03/783), which suggests that fertility or sterility problems in this popula
tion are due to chromosomal aberrations. Couples experiencing repeated spon
taneous abortions, having malformed children or having sterility problems h
ad chromosomal abnormalities in 18.0% (47/259 couples) of the population st
udied, and constituted chromosomal disorders occured in couples seeking IVF
and ICSI with prevalence of 22.2% (8/38 couples), especially minor mosaici
sm of sex chromosomes in the female partners. The prevalence of chromosome
abnormalities in infertile men was 17.7% (28/158), and in subfertile female
s, it was 26.4% (28/106).
CONCLUSIONS: These results could indicate an increased tendency to miotic s
ex chromosome non-disjuction in humans.