Fig. 15
From: Clinical significance and mechanisms associated with segmental UPD
CMA and FISH analyses of a case of segUPD associated with a triplication. A Microarray image of case 38, shows 3.56 Mb triplication (blue bracket) of bands p36.13p36.12 on chromosome 1 with an exclusive 2:2 (AABB) heterozygote allele pattern and a contiguous copy neutral terminal 19.35 Mb ROH (bracket). B A dual target interphase FISH image showing triplication of 1p (bracket) with inverted orientation of the middle segment (arrow)