EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions: state-of-the-art 2013
To detect somatic cytogenetic abnormalities and AZF microdeletions in a sample of 187 Turkish infertile men to determine the frequencies and the characteristics of our primary male infertility data in order to perform appropriate genetic counseling. This study included 187 infertile men. Chromosomal studies and screening of AZF deletions was performed by multiplex polymerase chain reaction (PCR) analysis using the Y Chromosome Deletion Detection System. Cytogenetic study revealed chromosomal abnormality in 9 subjects (4.8%). In remaining 178 subjects, 7 subjects (3.93%) were detected to have Y chromosome microdeletions. The AZFc region was the most frequently involved region in microdeletion process in affected subjects. All subjects having microdeletion were azoospermic Cytogenetic and molecular study should be performed to obtain reliable genetic information for the genetic counseling of primary infertile man. Y chromosome microdeletion diagnosis is useful in decision making for assisted reproductive technics.