A 39 year old man was referred to our department for chromosome analysis from peripheral blood and Y microdeletion screening. A 45,X[14]/46,XY [6] mosaic karyotype was detected. Y microdeletion testing using appropriate primers revealed no deletions. Genetic counseling was given to the patient about his karyotype.
Keywords: 45, X/46, XY, azoospermia, mozaicizm, Y microdeletion