Genomic imbalances from proband 007.

<p>(<b>A</b>) 18p11.32 microdeletion (red line) and the 18q partial trisomy in mosaicismo (light blue line) (<b>B</b>) <i>de novo</i> microduplication at Xp22.33-Xp21.3 (blue line) that involves 147 genes.</p

CNVs pathogenics from probands 002 and 006.

<p>(<b>A</b>) CMA from patient 002 showing a 3.677 Mb microduplication at 17p11.2 involving 64 genes. (<b>B</b>) CMA from patient 006 showing Xq27.3-q28 microduplication with 4.176 Mb that includes 4 genes related to intellectual disability.</p