case_images: PMC10681772_01
case_images: PMC10681772_02
case_images: PMC10681772_03
case_images: (a) Chromosomal microarray results demonstrating the 726 kb duplication in the 10-month-old son (top panel) and the co-occurrence of both the 1.33 Mb deletion and the 725 kb duplication in the mother (middle panel). The approximate locations of the LCRs and HIRA FISH probe are shown in the bottom panel. (b) Maternal peripheral blood FISH for 22q11.2 confirming mosaicism for the deletion (75% showing deletion). The red signal hybridizes to the HIRA gene on 22q11.2, located between LCRs A and B, while the green signal hybridizes to a control locus, ARSA on 22q13 (Vysis LSI DiGeorge/VCFS probe). (c) Possible configuration of maternal duplication and mosaic deletion in cis; pink square = duplication, blue X = deletion. (d) Possible configuration of maternal duplication and mosaic deletion in trans; pink square = duplication, blue X = deletion.
case_images: CRIG2023-9127430.001.jpg
case_images: PMC10681772_03_CRIG2023-9127430.001.jpg
case_images: fig1
case_images: The hybridization produced a deletion pattern in 74.2% of nuclei and a normal pattern in 25.8% of nuclei, consistent with mosaicism; however, cis versus trans configuration could not be determined by these assays (Figure 1).
case_images: SNP plots from the two pregnancies show a maternal 22q11.2 deletion and possible maternal duplication in the same region. The x-axis shows the relative position of SNPs along the analyzed chromosomes. The y-axis shows the relative amounts of the alleles. The shifting of the upper, lower, and middle bands in the 22q11.2 region indicates a deletion is present. As expected, the pattern is similar between the two cases. Note: this graphical representation of data does not in any way describe the functioning of Natera's technology.
case_images: CRIG2023-9127430.002.jpg
case_images: PMC10681772_03_CRIG2023-9127430.002.jpg
case_images: fig2
case_images: Internal review demonstrated evidence for the maternal deletion and duplication confirmed by microarray; however, the latter was not a validated nor reportable finding (Figure 2).