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

Figure 1

(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.

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