Estimation of aneuploidy levels in human spermatozoa using chromosome specific probes and in situ hybridisation

Summary The paper describes an attempt to estimate the frequency of aneuploid human spermatozoa with disomic Y chromosome and disomic chromosome 1 complements, using chromosome specific probes and in situ hybridisation. This approach was used as an alternative to the differential staining techniques that have been applied to spermatozoa in previous studies aimed at estimating levels of aneuploidy for chromosome 1 and the Y chromosome. A frequency of 1.8 per 1000 YY-bearing spermatozoa and 3.5 per 1000 disomy 1 spermatozoa was found, both figures being in excess of those found by sperm genome karyotyping. The technical limitations of the method are discussed.