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.

Related articles

 * Genomic Imprinting
 * Gene
 * Allele
 * Chromosome