Cytogenetic and chromosome Y microdeletion analysis of infertile men from North-Adriatic region of Croatia

Microdeletions of the long arm of the chromosome Y and major chromosomal aberrations are common cause of male infertility. One hundred and twenty four infertile and fourty control fertile men from North-Adriatic part of Croatia were screened according to the Laboratory guidelines for molecular diagnosis of Y chromosome microdeletions. Microdeletions were determined in two patients in the nonobstructive azoospermia group (27 patients) making the frequency of 7, 4%. In the other investigated groups of patients: severe oligoasthenozoospermia (19), oligoasthenozoospermia (44) and normoasthenozoospermia (34) or in the control group, no microdeletions of the long arm of chromosome Y were found. Microdeletion found in one patient was spanning AZFb and AZFc regions, while in the other one was restricted to AZFc region. Cytogenetic analysis was made in 85 patients included in the microdeletion testing. The overall frequency of chromosomal aberrations was 4, 7%. Reciprocal translocation t(12, 22) was found in normoasthenozoospermic man (1, 2%), and Klinefelter syndrome was determined in three patients (3, 5%) with azoospermia. The frequency of Y chromosome microdeletions is within values reported by other authors.