Breakpoint mapping and complete analysis of meiotic segregation patterns in three men heterozygous for paracentric inversions.

摘要: Paracentric inversions (PAIs) are structural chromosomal rearrangements generally considered to be harmless. To date, only a few studies have been performed concerning the meiotic segregation of these rearrangements, using either human–hamster fertilization system or fluorescence in situ hybridization (FISH) with centromeric telomeric DNA probes. improve assessment imbalances PAI, we present new strategy based on FISH assay multiple bacterial artificial chromosome probes, which allow precise localization break points and identification all products human sperm. Sperm samples three cases PAI were investigated: an inv(5)(q13.2q33.1), inv(9)(q21.2q34.13) inv(14)(q23.2q32.13). The frequencies spermatozoa inverted chromosomes 44.7% inv(5), 42.7% inv(9) 46.7% inv(14). global incidences unbalanced complements 9.7, 12.6 3.7% inv(14), respectively. This report is first study providing detailed description patterns sperm by approach. demonstrates that analysis may provide important data for both genetic counseling inversion carriers.