Sperm chromosome analysis in a man heterozygous for a reciprocal translocation 46, XY t(12;20) (q24.3;q11)

Abstract

Sperm chromosome complements were studied in a man who carried a reciprocal translocation t(12;20)(q24.3;q11). A total of 113 spermatozoa were karyotyped after in-vitro penetration of hamster eggs. 2:2 and 3:1 meiotic segregations were observed with the following frequencies: alternate 47%, adjacent 1 42%, adjacent 2 10%, 3:1 2%. For alternate segregations, the number of normal spermatozoa (25) was not significantly different from the number of spermatozoa carrying a balanced form of the translocation (28), as theoretically expected. The proportion of spermatozoa with an unbalanced form of the translocation was 53%. There was no evidence for an interchromosomal effect since the frequencies of numerical and structural abnormalities (unrelated to the translocation) were within the normal range of control donors.