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Genetic tales
- Hdl Handle:
- http://hdl.handle.net/10147/559075
- Title:
- Genetic tales
- Authors:
- Publisher:
- Journal:
- Issue Date:
- May-2015
- URI:
- http://hdl.handle.net/10147/559075
- 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.
- Item Type:
- Article
- Language:
- en
- Keywords:
Full metadata record
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Ryan, CA | en |
dc.date.accessioned | 2015-07-06T15:43:05Z | en |
dc.date.available | 2015-07-06T15:43:05Z | en |
dc.date.issued | 2015-05 | en |
dc.identifier.uri | http://hdl.handle.net/10147/559075 | en |
dc.description.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. | en |
dc.language.iso | en | en |
dc.publisher | Irish Medical Journal | en |
dc.subject | GENETIC DIAGNOSIS | en |
dc.title | Genetic tales | en |
dc.type | Article | en |
dc.identifier.journal | Irish Medical Journal | en |
dc.description.funding | No funding | en |
dc.description.province | Leinster | en |
dc.description.peer-review | peer-review | en |
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