Short Report: Clinical Features and Epilepsy Monitoring in an Adult With 22q11.2 Deletion Syndrome.
Mike W ZhangStephanie T BustrosTyler E GastonMaria DescartesShruti P AgnihotriPublished in: The Neurohospitalist (2024)
Our case illustrates the challenges of diagnosing genetic disorders in adults especially when the initial diagnosis is dependent on a number of factors, including the patient's age, the severity of the phenotypic features, and the awareness of the physician.