Description

Angelman syndrome is a neurodevelopmental disorder characterized by mental retardation, movement or balance disorder, typical abnormal behaviors, and severe limitations in speech and language. Most cases are caused by absence of a maternal contribution to the imprinted region on chromosome 15q11-q13. Prader-Willi syndrome is a clinically distinct disorder resulting from paternal deletion of the same 15q11-q13 region.

Genes:

UBE3A, SNRPN

Disorders:

Epilepsy, Ataxia, Intellectual Disability

Clinical Utility:

Confirmation of a clinical diagnosis, Carrier testing in unaffected family members

Methods