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Genetic tales

By CA Ryan

Abstract

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

Topics: GENETIC DIAGNOSIS
Publisher: Irish Medical Journal
Year: 2015
OAI identifier: oai:www.lenus.ie:10147/559075

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