Meiotic segregation of X-autosome translocation in two carriers and implications for assisted reproduction

The aim of this study was to analyse and compare the meiotic segregation of X-autosome translocation in two male carriers and to discuss couple-specific treatment modality before intracytoplasmic sperm injection (ICSI). Meiotic segregation was analysed by fluorescence in-situ hybridization (FISH) in spermatozoa of two men who were carriers of a X-autosome translocation: 46,Y,t(X;2)(p21;p25.3) (patient 1) and 46,Y,t(X;18)(q11;p11.1) (patient 2). The results indicated a majority of unbalanced spermatozoa (62.05%) for patient 1, but normal or balanced spermatozoa (54.36%) for patient 2. Moreover, the unbalanced gametes resulted from adjacent I, adjacent II and 3:1 segregation, in decreasing frequencies, for patient 1 but from 3:1, adjacent I, adjacent II segregation for patient 2. The results of the meiotic segregation analysis had different treatment implications for assisted reproduction. Couple 1 were advised against ICSI, due to the results of the meiotic segregation in spermatozoa from patient 1 and the age of his wife. For couple 2, the clinic viewed favourably an attempt with ICSI followed by conventional prenatal diagnosis. A 46,XY child was born without malformations.