Estudi citogenètic i molecular del procès meiòtic en barons amb cariotip anòmal

Study objective: To study, by different molecular cytogenetic techniques, the meiotic process in males with abnormal karyotype to determinate the factors that play a role in the meiotic segregation. Design: Molecular cytogenetic study for a human sperm chromosome complents. Immunocytogenetic study for meiosis I human spermatocytes and comparison of results from both studies. Setting: Sanitary area of Barcelona and Birmingham. Pastients: Males with abnormal karyotype, especcially with estructural abnormalities, ascertained in Clinical Genetic Departments. Interventions: Obtaining of sperm pronuclear chromosome complements by hamster oocyte-human sperm fusion. Obtaining of decondensed interphasic sperm nuclear extensions. Application of FISH techniques: centromeric probes, locus specific probes and whole chromosome painting. Eventual application of G-banding technic. Measurements: Cytogenetic analysis of the obtained metaphases and the meiotic segregation for each chromosomal abnormality. Direct evaluation of the offspring risk for each patient. Frequency of spermatozoma with numerical chromosome abnormalities and measurement of possible increased risk due to aneuplody.