Deletion of the centromere as a mechanism for achieving stability of a dicentric chromosome.
A patient with primary amenorrhea and a terminal rearrangement of chromosomes 13 and 20 is described. The stability of the dicentric translocation chromosome was achieved by suppression of the activity of the centromere of chromosome 20 and actual deletion of the centromere of chromosome 13. These two mechanisms may be fundamentally similar if centromere inactivation results from a visually undetectable deletion.
D000293:Adolescent; D000568:Amenorrhea / Q000235:genetics*; D002503:Centromere / Q000648:ultrastructure*; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002875:Chromosomes / Q000648:ultrastructure*; D002901:Chromosomes, Human, 13-15; D002903:Chromosomes, Human, 19-20; D005260:Female; D005347:Fibroblasts / Q000648:ultrastructure; D006801:Humans; D007621:Karyotyping; D008214:Lymphocytes / Q000648:ultrastructure; D014178:Translocation, Genetic