Cryptic pathogenic CNVs detected in this study were associated with the following clinically relevant anomalies: Two 22q11.2 deletions associated with DiGeorge syndrome (MIM #188400); two 16p11.2 duplications associated with proximal or distal 16p11.2 micro-duplication syndrome (MIM #614671); 1p36 deletion syndrome (MIM #607872); 1q21.1 duplication syndrome (MIM #612475); and RYR2 deletion associated to heart anomalies (MIM #600996, MIM #604772). Here, RYR2 is linked to 22q11.2 deletion syndrome.