Beckwith-Wiedemann Syndrome: Difference between revisions
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__NOTOC__<noinclude>{{Dictionary | __NOTOC__<noinclude>{{Dictionary | ||
|eng=Beckwith-Wiedemann syndrome}}</noinclude> | |eng=Beckwith-Wiedemann syndrome}}</noinclude> | ||
* This uniparental disomy is connected with '''changes of methylation on | * This uniparental disomy is connected with '''changes of methylation on chromosome 11'''. The syndrome affects more parts of the body. | ||
* ''Typical | * ''Typical symptomes'': 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 symptomes. | ||
* Incidence of Becwith-Wiedemann sydrome is ''1 in 12 000 people'' worldwide. | * Incidence of Becwith-Wiedemann sydrome is ''1 in 12 000 people'' worldwide. | ||
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* [[Gene]] | * [[Gene]] | ||
* [[Allele]] | * [[Allele]] | ||
* [[ | * [[Chromosome]] | ||
=== Sources=== | === Sources=== | ||
* [http://ghr.nlm.nih.gov/handbook/inheritance/updimprinting What are Genomic Imprinting and Uniparental Disomy] | * [http://ghr.nlm.nih.gov/handbook/inheritance/updimprinting What are Genomic Imprinting and Uniparental Disomy] | ||
Revision as of 11:38, 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 symptomes: 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 symptomes.
- Incidence of Becwith-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.
