16p11.2 Deletion Syndrome.

Objectives: 16p11.2 deletion syndrome is a rare genetic abnormality that affects an individual's cognitive abilities. 16p11.2 deletion syndrome is characterized by a loss of region 11.2 on chromosome 16, which includes several genes with various functions. Numerous genes linked to this loss are essential for brain function and neurodevelopment. Notably, genes associated with neuronal development, synaptic function, and brain connection have been found inside the deleted region, including KIF22, TAOK2, and ALDOA, as well as approximately 22 to 25 other additional genes. The diverse clinical presentations noted in patients with 16p11.2 deletion syndrome can be ascribed to the intricate interactions among these mutated genes and their influence on multiple cellular processes. The 16p11.2 deletion syndrome is not observable by conventional cytogenetics. Chromosomal microarray studies are recommended to detect this 16p11.2 deletion.