Fig. 17
From: Clinical significance and mechanisms associated with segmental UPD
Mosaic example of a segUPD/triplication correction. The fetal demise from patient 46 showed terminal homozygotic alleles and smooth signal dosage consistent with ~ 80% replacement of a terminal 8p deletion/proximal duplication with a copy of the terminal segment from the normal homologue, resulting in terminal segUPD visualized by a terminal ROH (bracket) and a contiguous triplication with the characteristic exclusive balanced AABB heterozygote alleles (smooth signal track, blue bracket). Replacement of the deletion with material from the normal homologue appears to have initiated at the distal end of the contiguous duplication