A Diagnosis of Maternal 22q Duplication and Mosaic Deletion following Prenatal Cell-Free DNA Screening

Figure 2

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.