Genetic tales

Abstract

Genetic diagnoses do not always happen in a clinic or as a result of a blood test. We describe how two relatively rare genetic diagnoses were made in unusual circumstances, one by self-diagnosis, the second by pattern recognition in a public space. At a recent meeting of the Irish American Pediatric Society in Charleston NC, eminent cardiologist and discoverer of Noonan Syndrome, Jacqueline Noonan, spoke of a man who wrote to her having made a self-diagnosis of Noonan syndrome: a characteristic configuration of facial features including a webbed neck and a flat nose bridge, short stature and heart defects 1 . Dr Noonan arranged to meet this 65 year-old man and personally validated him as perhaps the oldest confirmed, and first ever self-diagnosed, case of Noonan syndrome.