Analysis of segregation and aneuploidy in two reciprocal translocation carriers, t(3;9)(q26.2;q32) and t(3;9)(p25;q32), by triple-color fluorescence in situ hybridization

Meiotic segregation patterns of chromosomes 3 and 9 were analyzed in sperm of two translocation carriers (t(3;9)(q26.2;q32) and t(3;9)(p25;q32)) by tr iple-color fluorescent in situ hybridization (FISH) with a telomeric DNA pr obe in addition to two centromeric probes. The frequencies of each sperm pr oduct resulting from alternate or adjacent I, adjacent II and 3:1 segregati on in a t(3;9)(q26.2;q32) translocation carrier were 88.35%, 5.44% and 5.94 %, respectively. On the other hand, the frequencies of each sperm product i n a t(3;9)(p25;q32) translocation carrier were 89.23%, 6.02% and 4.48%, res pectively. Of all the sperm products, the frequency of normal or chromosoma lly balanced sperm in a t(3;9)(q26.2;q32) and a t(3;9)(p25;q32) were 52.49% and 47.25%, respectively. The frequencies of each sperm product resulting from various segregations were different between both carriers and signific antly deviated from the expected frequencies. Additional dual-color and tri ple-color FISH were performed to analyze aneuploidy rates for chromosomes 1 2, 17, 18, X and Y in order to detect any interchromosomal effect; no evide nce of an interchromosomal effect was found.