Angelman Syndrome

English: Angelman syndrome

Chromosome 15 - Angelman syndrome

• This syndrome is caused by the loss of function of gene UBE3A - just the maternal copy of this gene is functional. Thus loss of the maternal gene causes this symptome. The critical region of this disorder is located on chromosome 15 (The Prader-Willi/Angelman Critical Region- PWACR; 15q11-13). This genetic disorder is connected especially with the nervous system. Children are affected in their early age.
• Typical symptoms: developmental delay, speech problems, ataxia, epilepsy or microcephaly.
• Patients are sometimes called "happy puppets" because of their behavior. They frequent smile, laugh and have flapping movements.
• Incidence of Angelman syndrome is 1 in 12 000 - 20 000 people worldwide.

Links

Related articles

• Genomic Imprinting
• Prader-Willi Syndrome
• 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.