Among them, cases 8, 10, 11, and 13 had approximately 3 mb of duplications or deletions in the LCR22-A to LCR22-D region, which contains 49 OMIM genes, such as TBX1, CLTCL1, and HIRA, with clinical phenotypes including congenital heart disease, facial anomalies, and palatopharyngeal insufficiency, all of which were pathogenic CNVs, and the pregnancies were terminated after genetic counseling. The gene discussed is TBX1; the disease is congenital heart disease.