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. 2022 Apr 7;58(4):522. doi: 10.3390/medicina58040522

Figure 1.

Figure 1

(A) Pedigree of the family. Genomic variants identified by both aCGH and WES are reported for each member of the family trio. (B) a-CGH profile of chromosome 7. This analysis shows a heterozygous duplication in 7q35 of 883.54 kb involving CNTNAP2, LOC101928700, MIR548F4 in the proband (II-2) and in the father (I-1), CGH analysis. The deletion was not observed in the mother (I-2). The duplication, when present, is indicated by a blue rectangle.