Cytogenetic Findings in Couples who Are Candidates for Assisted Reproductive Techniques

Objective: The present retrospective study aims at identifying the prevalence ofchromosomal abnormalities in a population of couples who are candidates for assistedreproductive techniques.Materials and Methods: Cytogenetic analysis was performed according to thestandard methods on cultured cells from the patients’ peripheral blood. The culture,was harvested after 72 hours. At least 20 metaphases were examined byGTG banding.Results: The analyses of the Karyotypes of 1726 candidate patients (863 menand 863 women) revealed a total of 107 aberrant karyotypes, The frequenciesof abnormalities were 3.6% (31/863) for men and 8.8% (76/863) for women. Thefollowing frequencies of abnormalities were observed for women: 6%(n=52) forsex chromosome mosaicism, 1.4%(n=12) for translocations, 0.3%(n=3) for inversionsand 1%(n=9) for other abnormalities. Whereas, the frequencies of abnormalitiesfor men were: 0.9%(n=8) for sex chromosome mosaicism, 1.2%(n=11) fortranslocations, 0.3%(n=3) for autosomal inversions, 0.4%(n=4) for Y chromosomeinversion. Kelinefelter syndrome was detected in one patient and 47, XY, +markaryotype in another patient.Conclusion: The high frequency of chromosomal abnormalities in couples withreproductive failure is well distinguished. In this study a higher frequency of aberrationswas more observed in women than men. The frequency of translocationswas similar in both sexes, but in men the frequency of inversions was higher thanwomen, whereas the frequency of sex chromosome mosaicism in women washigher than men

MSX1 mutations and associated disease phenotypes:genotype-phenotype relations

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