Genetic reproductive risk in inversion carriers

摘要: Objective To evaluate the risk of four inversion carriers for producing unbalanced gametes. Design Prospective analysis sperm nuclei by fluorescence in situ hybridization (FISH). Setting Universitat Autonoma de Barcelona. Patient(s) Four carriers. Intervention(s) A semen sample from each patient was collected and prepared FISH. Main Outcome Measure(s) The segregation outcome analyzed. presence interchromosomal effects (ICE) on chromosomes 13, 18, 21, X, Y also evaluated. Result(s) variable production gametes, which implies a heterogeneous behavior inversions, detected. This variability seems to be directly related size inversion, indicating that recombinant gametes would not relevant when inverted segment is smaller than 100 Mbp. Conclusion(s) Inversions have well-defined reproductive effect Carriers inversions up Mbp low genetic usually benefit preimplantation diagnosis.