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De novo translocation heterozygote with three reciprocal translocations
Journal of Medical Genetics
|October 1, 1983
Abstract:
An extremely rare case of a child with three balanced reciprocal translocations involving six different autosomes is described. These abnormalities have apparently arisen de novo and seem to have only relatively minor phenotypic effects. The meiotic possibilities are discussed and cytogenetic markers suggest that the damage may have occurred in a paternal gamete.