Description
Angelman syndrome is characterized by severe motor and intellectual retardation, seizures associated with characteristic EEG traces, microcephaly, ataxia, frequent jerky limb movements and flapping of the arms and hands, hypotonia, hyperactivity, hypopigmentation (39%), absence of speech, characteristic face shape, and episodes of paroxysmal laughter. The AS phenotype results from the lack of a maternal contribution at chromosome 15q11-q13.
Also known as
AS
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Additional information
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Sending address
Great Ormond Street Hospital NE Thames Regional Genetics Service Laboratories
Great Ormond Street Hospital for Children
Barclay House
37 Queen Square
London
WC1N 3BH
Laboratory service
Genetics
Sample requirements
1ml EDTA neonates, 5ml EDTA adults
Reference range
Not applicable
Turnaround time
20 days
Disease / group
15q11-q13 (Angelman Syndrome)
Cost
Upon request
Call in advance?
Prenatals must be arranged in advance, through a Clinical Genetics department if possible.