Beckwith-Wiedemann Syndrome: Difference between revisions
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|eng=Beckwith-Wiedemann syndrome}}</noinclude> | |eng=Beckwith-Wiedemann syndrome}}</noinclude> | ||
* This uniparental disomy is connected with '''changes of methylation on chromosome 11'''. The syndrome affects more parts of the body. | * This uniparental disomy is connected with '''changes of methylation on chromosome 11'''. The syndrome affects more parts of the body. | ||
* ''Typical | * ''Typical symptoms'': macrosomia (overgrowth), omphalocele (inborn hole in the abdomen), large tongue, kidney abnormalities. About 20% of patients die in early age because of the complications of these congenital symptoms. | ||
* Incidence of | * Incidence of Beckwith-Wiedemann sydrome is ''1 in 12 000 people'' worldwide. | ||
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== Links == | == Links == | ||
Revision as of 11:44, 7 August 2011
| English: Beckwith-Wiedemann syndrome |  |
- This uniparental disomy is connected with changes of methylation on chromosome 11. The syndrome affects more parts of the body.
- Typical symptoms: macrosomia (overgrowth), omphalocele (inborn hole in the abdomen), large tongue, kidney abnormalities. About 20% of patients die in early age because of the complications of these congenital symptoms.
- Incidence of Beckwith-Wiedemann sydrome is 1 in 12 000 people worldwide.
Links
Related articles
Sources
Bibliography
- KUMAR, ABBAS, FAUSTO, MITCHELL,. Robbins Basic Pathology. 8th edition edition. 2007. ISBN 978-0-8089-2366-4.
