Beckwith-Wiedemann Syndrome: Difference between revisions
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* This uniparental disomy is connected with '''changes of methylation on chromosome 11 (11p15)'''. The syndrome affects more parts of the body. | * This uniparental disomy is connected with '''changes of methylation on chromosome 11 (11p15)'''. The syndrome affects more parts of the body. | ||
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* [[Allele]] | * [[Allele]] | ||
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=== 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] | ||
* [http://www.geneimprint.com/site/what-is-imprinting What is Genomic Imprinting?] | * [http://www.geneimprint.com/site/what-is-imprinting What is Genomic Imprinting?] | ||
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[[Category: Genetics]] | [[Category:Biology]] | ||
[[Category: Paediatrics]] | [[Category:Genetics]] | ||
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Revision as of 18:08, 8 December 2014
| English: Beckwith-Wiedemann syndrome |  |
- This uniparental disomy is connected with changes of methylation on chromosome 11 (11p15). The syndrome affects more parts of the body.
- Typical symptoms: macrosomia (overgrowth or simply gigantism), omphalocele (or related abdominall wall defect), large tongue (macroglossia), kidney abnormalities, hypoglycemia (because of the hyperinsulinisms) and increased risk of tumors (like Wilms tumor) during the childhood. About 20% of patients die in early age because of the complications of these congenital symptoms.
- It is alo called EMG syndrome (exomphalos, macroglossia, gigantism).
- Incidence of Beckwith-Wiedemann sydrome is 1 in 12 000 people worldwide.
- Molecular-genetic diagnostics (inluding the identification of abnormal methylation) is possible.
Links
Related articles
Sources
Bibliography
- KUMAR, ABBAS, FAUSTO, MITCHELL,. Robbins Basic Pathology. 8th edition edition. 2007. ISBN 978-0-8089-2366-4.
