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dc.contributor.authorRyan, CA
dc.date.accessioned2015-07-06T15:43:05Zen
dc.date.available2015-07-06T15:43:05Zen
dc.date.issued2015-05en
dc.identifier.urihttp://hdl.handle.net/10147/559075en
dc.description.abstractGenetic 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.
dc.language.isoenen
dc.publisherIrish Medical Journalen
dc.subjectGENETIC DIAGNOSISen
dc.titleGenetic talesen
dc.typeArticleen
dc.identifier.journalIrish Medical Journalen
dc.description.fundingNo fundingen
dc.description.provinceLeinsteren
dc.description.peer-reviewpeer-reviewen
refterms.dateFOA2018-08-26T22:06:08Z
html.description.abstractGenetic 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.


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