Aplicació del mètode de pintat cromosòmic a l'estudi citogenètic d'espermatozoides d'individus heterocigòtics per a reorganitzacions cromosòmiques

Study objetive: to adequate the FISH chromosomal painting technique to human sperm chromosomes and applicate this method to cytogenetic studies in carriers of chromosome rearrangements. Design: human sperm cytogenetic studies in carriers of chromosome rearrangements after "in situ" hibridation and banding. Setting: sanitary area of Barcelona. Patients: carriers of chromosomal rearrangements ascertained in clinical genetics departments. Interventions: obtention of human chromosome complements by hamster oocyte-human sperm fusion. Aplication of FISH-painting and G-banding techniques. Measurements: karyotype and cytogenetic analysis of metaphases. Meiotic behaviour in each chromosomal rearrangement. Frecuency of spermatozoa with chromosomal abnormalities and the empiric offspring risk for each patient. Possible existence of the interchromosomal effects and if they are differencies between b