Analysis of meiotic segregation patterns and interchromosomal effects in sperm from a Robertsonian translocation family

The objective of the present study is to provide more genetic information about meiotic segregation behavior and the possibility of interchromosomal effects (ICE) in spermatozoa from carriers of Robertsonian (Rob) translocation. Analysis of sperm chromosomes was done by fluorescence in situ hybridization (FISH). In vitro fertilization was conducted in clinic and genetics laboratory in a hospital. Two patients (men) from a Rob translocation family were included in the study. Multicolor FISH was used for probing of chromosomes 14, 15, 18, X, and Y on sperm. Main Outcome Measure: Frequencies of meiotic segregation products in sperm and sperm aneuploidy of chromosomes 14, 15, 18, X, and Y. To Rob Translocation heterozygote of this paper, the rate of normal/balanced spermatozoa resulting from alternate segregation is 79.9%. The frequency of unbalanced spermatozoa resulting from adjacent segregation is 20.1%. The higher frequencies of aneuploidy for sex chromosome were observed. In addition, the increased rates of diploid were found. To Rob translocation homozygosity, the rate of balanced spermatozoa is 99.7%. The frequency of unbalanced spermatozoa is 0.3%. The higher frequencies of aneuploidy for sex chromosome were not observed. Alternate segregation is dominant in the different types of Rob translocations. Carriers may be at an increased risk for ICE. Rob translocation homozygosity could be seen as a potential speciation in humans with 44 chromosomes