Juleartikel: Genetisk udredning ved syndromale patienter – d’oh!

Patients come in various shapes and sizes, and even in the event of significant clinical findings such as intellectual disability and dysmorphism, consideration for the patient’s need for genetic investigations, as well as the risk of incidental finding must be considered in all cases. This case story, based on a known cartoon figure, illustrates some of the challenges clinicians face when considering genetic testing.