Angelman Syndrome

English: Angelman syndrome

Chromozome 15 - Angelman syndrome

• This syndrome is caused by the lost of function of gene UBE3A - just maternal copy of this gene is functional. Syndrome is result of the lost of maternal chromozome 15 segment. This genetic disorder is connected especially with the nervous system. Childrens are affected in their early age.
• Typical symptoms: developmetal delay, speech problems, ataxia, epilepsy or microcephaly.
• Pacients are sometimes called "happy puppets" because of their behavior. They frequent smile, laught and have flapping movements.
• Incidence of Angelman syndrome is 1 in 12 000 - 20 000 people worldwide.

Links

Related articles

• Genomic Imprinting
• Gene
• Allele
• Chromozome

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.