Document Type : Original Article
Genetics Department, Reproductive Medicine Research Center, Royan Institute, ACECR, Tehran, Iran
Objective: The present retrospective study aims at identifying the prevalence of chromosomal abnormalities in a population of couples who are candidates for assisted reproductive techniques.
Materials and Methods: Cytogenetic analysis was performed according to the standard methods on cultured cells from the patients’ peripheral blood. The culture, was harvested after 72 hours. At least 20 metaphases were examined by GTG banding.
Results: The analyses of the Karyotypes of 1726 candidate patients (863 men and 863 women) revealed a total of 107 aberrant karyotypes, The frequencies of abnormalities were 3.6% (31/863) for men and 8.8% (76/863) for women. The following frequencies of abnormalities were observed for women: 6%(n=52) for sex chromosome mosaicism, 1.4%(n=12) for translocations, 0.3%(n=3) for inversions and 1%(n=9) for other abnormalities. Whereas, the frequencies of abnormalities for men were: 0.9%(n=8) for sex chromosome mosaicism, 1.2%(n=11) for translocations, 0.3%(n=3) for autosomal inversions, 0.4%(n=4) for Y chromosome inversion. Kelinefelter syndrome was detected in one patient and 47, XY, +mar karyotype in another patient.
Conclusion: The high frequency of chromosomal abnormalities in couples with reproductive failure is well distinguished. In this study a higher frequency of aberrations was more observed in women than men. The frequency of translocations was similar in both sexes, but in men the frequency of inversions was higher than women, whereas the frequency of sex chromosome mosaicism in women was higher than men.