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Background Chromosomal abnormalities represent an important cause of human infertility. Little is known about the prevalence of chromosomal abnormalities among Egyptian couples with infertility. We estimated the cytogenetic profiles and semen analysis patterns among infertile couples. We analyzed data from medical archives of 2150 patients with infertility in Mansoura University Children’s Hospital, Egypt from 2015 to 2019. The data included karyotypes and semen analysis reports. Results Chromosomal abnormalities were reported in 13.5% of infertile patients (290/2150); 150 out of 1290 (11.62%) males and 140 out of 860 (16.28%) females. Within the infertile males, the numerical chromosomal abnormalities were detected in 134/1290 (10.38%) males, and structural abnormalities were found in 16/1290 (1.24%) males. Within the infertile females, numerical sex chromosome abnormalities were detected in 75/860 (8.72%) females, structural sex chromosome abnormalities were found in 31/860 (3.6%) females, mosaicism of the sex chromosome was found in 22/860 (2.56%) females, and male pseudohermaphrodites were detected in 12/860 (1.39%) females. Conclusions Numerical chromosomal aberrations are the most frequent patterns among infertile couples. Attention should be paid to the traditional chromosomal analysis as an important diagnostic step in the infertility work-up.

Prevalence and patterns of chromosomal abnormalities among Egyptian patients with infertility: a single institution’s 5-year experience