22q11.2 Deletion Syndrome

22q11.2 deletion syndrome (22q11DS) is a common multisystem anomaly condition associated with learning differences, behavioral problems, and psychiatric conditions. This syndrome was originally described by several clinical diagnoses based on physical features later found to all be associated with a small deletion on the long (q) arm of the 22nd chromosome at the 11.2 position. Patients with 22q11DS have any of a number of medical conditions that may directly or indirectly affect learning and cognition. In addition, there is a particular neurocognitive profile that may be seen in patients with 22q11DS. Behavioral problems, such as attention-deficit/hyperactivity disorder (ADHD), are common in 22q11DS. Psychiatric disorders, including anxiety, depression, and psychotic disorders, occur more frequently than in the general population. This entry discusses the diagnosis and genetics ...