Extreme variant of the short arm of chromosome 15.
Using fluorescence in situ hybridization, primed in situ labelling, and conventional cytogenetic staining we have characterized an excessively enlarged short arm of chromosome 15. The likely mechanism explaining this variant chromosome involves amplification of rDNA sequences followed by inverted insertional translocation between the enlarged sister chromatids of the short arm of chromosome 15.
Friedrich
U
U
Institute of Human Genetics, University of Aarhus, Denmark. zitta@humgen-aau.dk
Caprani
M
M
Niebuhr
E
E
Therkelsen
A J
AJ
Jørgensen
A L
AL
D002842:Chromatids; D002869:Chromosome Aberrations; D007446:Chromosome Inversion; D002884:Chromosomes, Human, Pair 15 / Q000737:chemistry / Q000235:genetics*; D004275:DNA, Ribosomal / Q000032:analysis*; D004276:DNA, Satellite / Q000235:genetics; D005260:Female; D006801:Humans; D008957:Models, Genetic; D016615:Telomere; D014178:Translocation, Genetic
D004275:DNA, Ribosomal; D004276:DNA, Satellite