Beckwith-Wiedemann Syndrome

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

• Genomic Imprinting
• Gene
• Allele
• Chromosome

Sources

• What are Genomic Imprinting and Uniparental Disomy
• What is Genomic Imprinting?

Bibliography

• KUMAR, ABBAS, FAUSTO, MITCHELL,. Robbins Basic Pathology. 8th edition edition. 2007. ISBN 978-0-8089-2366-4.