These included trisomy 13, trisomy 21, monosomy X, mosaic trisomy 12, derivative 18, derivative 22, 8p deletion/duplication syndrome, marker chromosome 22 (cat eye syndrome), a 10 Mb 13q33.2 deletion, five patients with Noonan (-like) syndrome, three patients with CHARGE syndrome, one patient with Kabuki syndrome, one patient with Cornelia de Lange syndrome, and one patient with an ELN mutation. The gene discussed is ELN; the disease is Cornelia de Lange syndrome.