These included 17 cases of DiGeorge syndrome/22q11.2 deletion or TBX1 intragenic mutation (61% of syndromic TCL); two cases each of ataxia telangiectasia (AT), coloboma, heart defect, atresia choanae, retarded growth and development, genital abnormality (CHARGE syndrome), and trisomy-21; and one case each of Noonan syndrome, Kabuki makeup syndrome, congenital lipomatous overgrowth vascular malformations epidermal nevi and spinal/skeletal anomalies (CLOVES syndrome), Fryns syndrome, and newly described EXTL3 deficiency [17]. This evidence concerns the gene TBX1 and ataxia telangiectasia.