Although none of the studies that used MLPA as a CNV screening method for CHD patients found subjects with the involvement of the TBX5 gene, both deletions and duplications involving this gene were reported in a number of patients with an atypical HOS phenotype through more complex genetic testing, especially array Comparative Genomic Hybridization [60,61,62,63]. Here, TBX5 is linked to Holt-Oram syndrome.