Distal chromosome 22q11.2 deletion syndrome is a rare genetic syndrome (Orphanet 2024) that mainly affects the cardiovascular and neurologic systems, and head and neck organs, which is distinct from DiGeorge Syndrome (DGS) and Velocardiofacial Syndrome (VCS). The syndrome is characterized by prematurity, pre- and postnatal growth retardation, developmental delay, hypotonia, speech delay, mental retardation, seizures, and behavioral psychiatric manifestations such as attention deficit hyperactivity disorder (ADHD), autism spectrum disorder, and social immaturity. Half of the patients usually manifest with facial dysmorphic features such as microcephaly, brachycephaly, frontal bossing, smooth philtrum, pointed chin, preauricular skin tags, synophrys, arched eyebrows, deep set eyes, short palpebral fissures, upslanting palpebral fissures, hypoplastic alae nasi, choanal atresia, cleft lip and palate, and thin upper lip (Orphanet 2024). Affected patients with distal chromosome 22q11.2 deletion syndrome are usually neonates and children who develop the above symptoms as they grow up. The consistent presence of these traits across generations suggests a strong genetic basis. A deletion of a region on the long arm of chromosome 22, located distal to the commonly known 3-Mb or nested 1.5-Mb deletions, has been discovered to play a key role in distal chromosome 22q11.2 deletion syndrome (Rauch et al. 1999).