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Pediatric Angelman Syndrome
Children with Angelman syndrome (AS) have an unusual facial appearance, short stature, severe intellectual disability with a lack of speech, stiff arm movements, and a spastic, uncoordinated walk. They may have seizures and often have inappropriate outbursts of laughter.
Angelman syndrome can result when a baby inherits both copies of a section of chromosome #15 from the father (rather than one from the mother and one from the father). AS can also occur, even when chromosome #15 is inherited normally: one chromosome coming from each parent. If that section of the mother's chromosome #15 is deleted, only the father's section will be present, allowing AS symptoms to occur. This deletion of a section of the maternally inherited chromosome is the most common cause of Angelman syndrome.
Division Chief, Genetics and Metabolism
Director, Rare Disease Institute
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