- Genetic changes occur as random events during either the formation of gametes or early embryonic development.
- A segment of the maternal chromosome 15 containing the UBE3A gene is deleted (70% of cases).
- A 5-15% of causes caused by paternal uniparental disomy (child inherits both chromosomes 15 from the father).
- A 2-7% of cases due to imprinting mutation.
- Causes of the genetic changes are unknown.
- Wide mouth, wide spaced teeth.
- Abnormal protrusion of the jawbone.
- Hypopigmented tongue, light hair and eye color (as compared to family).
- Strabismus (crossed-eyes)
- Hand flapping movements.
- Aggressive behavior.
- Frequent drooling.
- Excessive chewing and mouthing behavior.
- Abnormal sleep wake cycles.
- Speech impairment.
- Short attention span.
- Problems with movement and balance.
- Developments delay.
- Alpha-thalassemia, retardation syndrome, X-linked (ATR-X).
- Methylenetetrahydrofolate reductase deficiency (MTHFR).
- Gurrieri syndrome.
- Lennox-Gastaut syndrome
- Static encephalopathy
- Childhood autism
- Pervasive developmental disorder, not otherwise specified (PDD-NOS)
- Mitochondrial encephalopathy.
- Fluorescent In Situ hybridization (FISH) - The deletion of the chromosomal copy is detected through this procedure.
- Cytogenetic Testing - This is done to check any visible rearrangement of the chromosomal structure.
- DNA methylation Analysis - This is one of the most important and preliminary genetic tests conducted on an Angelman patient.
- Uniparental Disomy (UPD) - DNA samples from the patient as well as the parents are collected and used for polymorphism testing.
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