Prader-Willi Syndrome

English: Prader-Willi syndrome

Chromosome 15 – Prader-Willi syndrome

• About 2/3 of cases are induced by the loss of paternal chromosome 15 segment (The Prader-Willi/Angelman Critical Region- PWACR; 15q11-13). Physiologically, just genes in the paternal region are functional (the maternal copies are imprinted, i.e. epigenetically silenced) – opposite to Angelman syndrome.
• Typical symptoms: hypotonia, obesity, poor growth, delayed development and higher appetite (hyperphagia – leads to overeating).
• Children have also problems with their learning abilities and behavior. We can also find typical physical features – smaller feet and hands, fair skin, underdeveloped genitals (hypogonadism). Some of the affected patients are infertile.
• Incidence of Prader-Willi syndrome is 1 in 10,000–30,000 people worldwide.

Links

Related articles

• Genomic Imprinting
• Angelman 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.