The main factor leading to DGS is the deletion of 22q11.2, which encodes over 90 genes. Researchers have not yet identified all of the genes that contribute to the features of 22q11.2 deletion syndrome. They have determined that the loss of one particular gene on chromosome 22, TBX1, is probably responsible for many of the syndrome's characteristic signs (such as heart defects, a cleft palate, distinctive facial features, and low calcium levels). A loss of this gene does not appear to cause learning disabilities, however. Additional genes in the deleted region are likely to contribute to the signs and symptoms of 22q11.2 deletion syndrome.
22q11.2 deletion syndrome pathophysiology
22q11.2 deletion syndrome causes
22q11.2 deletion syndrome epidemiology and demographics
Fanconi syndrome pathophysiology
Down syndrome causes
Bannayan-Riley-Ruvalcaba syndrome pathophysiology
Renal agenesis pathophysiology
Phenocopies of primary immunodeficiency