Angelman Syndrome – Symptoms and Causes

By
Sherry Hight
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8Genomic Imprinting Defects

Genomic imprinting is a process in which a copy of the same gene can be silenced preferentially. This would either be the paternal or maternal genetic copy. In general, genomic imprinting plays an important role in ensuring the healthy development of many body parts. When defective imprinting occurs, Angelman syndrome can occur when the error deactivates the area of the maternal chromosome 15 that contains the UBE3A gene. It is estimated that around 3 percent of reported cases can be caused by this genetic problem. However, more research is still needed to understand the mechanism better. [8]

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