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Temporal prenatal analyses in case 4. A NIPT analysis showing an 8.72 Mb terminal deletion (red bracket) contiguous with a 3.44 Mb duplication that extends to 1p36.22 (blue bracket). B Amniocyte CMA revealing a terminal 16.32 Mb copy neutral ROH initiating at band 1p36.13 (lower panel). Pooled placental analysis (top panel) showing ~ 80% mosaicism for the alterations initiating at 1p36.22. Note that the ROH initiates proximally to the duplication
