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. 2022 Apr 7;30(6):712–720. doi: 10.1038/s41431-022-01094-x

Fig. 1. Identification of triplication and duplication events on the short arm of chromosome 16 using CMA.

Fig. 1

A, B CMA profiles for patients 1 and 2. Identification of a 16p13.11p11.2 triplication between udSD and BP1 for both patients (log2 ratio at 1). Identification of a 16p11.2 duplication (log2 ratio at 0.58) between BP1 and BP3 for patient 1 and between BP1 and BP2 for patient 2. C Schematic representation of the short arm of chromosome 16. The centromere is represented by a black circle. The centromere and the telomere are indicated by “cen” and “tel”, respectively. The SDs are indicated by hatched rectangles. Their genomic positions (according to human genome Build GRCh37/Hg19) are shown on the left. The six SDs of interest (udSD and BP1 to BP5) are indicated on the right [18]. The major genes of the region are indicated in the gray rectangles.