Hypospermiogenesis and chromosomal aberrations. A clinical study of azoospermic and oligozoospermic men with normal and abnormal karyotype

Abstract

Clinical examinations including cytogenetical analyses were performed in 356 male partners of barren couples, 176 with azoospermia and 180 men with sperm counts below 10 million/ml. The chromosomal aberrations observed were: Klinefelter's syndrome (15 cases), 46 XX (3), 47 XYY (1), Y‐chromosome anomalies (5), robertsonian (8) and reciprocal autosomal translocations (1), and 46XY 16h+ (1). If minor variants were excluded this gave an incidence of constitutional chromosomal abnormalities of 11.9% in the azoospermia group and 4.4% in the oligozoospermia group. The phenotypes expressed by the specific anomalies showed great variations and appeared to be practically indistinguishable from those individuals having a normal karyotype. Copyright © 1981, Wiley Blackwell. All rights reserved