Pediatric Angelman Syndrome

Angelman syndrome can happen when a baby gets both copies of a part of chromosome #15 from the father. But Angelman syndrome most often happens when a chromosome #15 from each parent is present, but part of the mother’s chromosome is deleted. Then only the father's part is present. This causes Angelman syndrome symptoms to occur. 

People with Angelman syndrome can have these traits:

• Smaller head
• A wide jaw and spaced-out teeth
• Puffy-looking eyelids
• Short stature
• Severe intellectual disability with a lack of speech
• Stiff arm movements
• Spastic, uncoordinated walk
• Seizures
• Random outbursts of laughter

People with Angelman syndrome (AS) can have these traits:

• Smaller head
• A wide jaw and spaced-out teeth
• Puffy-looking eyelids
• Short stature
• Severe intellectual disability with a lack of speech
• Stiff arm movements
• Spastic, uncoordinated walk
• Seizures
• Random outbursts of laughter

The genetic test for Angelman syndrome is called Uniparental Disomy. This is a blood test used to see if your child has certain chromosome changes.

Normally, people have 23 pairs of chromosomes in their cells. In each pair, one chromosome comes from their father and one from their mother. These chromosomes contain genes.

Sometimes people will inherit 2 copies of a chromosome or a part of a chromosome from their mother or father, but none from their other parent. This is called uniparental disomy. In some cases, this causes health problems.

Two health conditions that are often linked to uniparental disomy are Prader-Willi syndrome and Angelman syndrome. This blood test can help find out if a child has uniparental disomy related to one of these syndromes.