- 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.
A large-scale scientific review, presented at the European Association for the Study of Diabetes meeting in Berlin, suggests that three to four cups of coffee a day may decrease the risk of developing type 2 diabetes by 25 percent. For the study, the researchers...
A new study, recently published in the European Journal of Preventive Cardiology, suggests that exposure to blue light may help reduce high blood pressure. For the study, a team of researchers assessed whether blue light exposure could produce enough nitric oxide to...
Factors such as age, gender, physical activity, genetics, medical history, body type, and others directly affect not only the desire to lose weight, but also to follow the right diet. Everything is relative, everything is individual. Nevertheless, there are universal...read more
It is very entertaining to be a sport fan. There is a big variety of sport games that are extremely interesting to follow. Moreover, it is always fun to anticipate the score and watch the enthusiasm live. One of the benefits of being sports fan is using different...read more
A new study of nearly 18,000 participants found that those with high fitness at middle age were significantly less likely to die from heart disease in later life, even if they were diagnosed with depression. Doctor's Tips: How to Stay Fit While Treating Depression Dr....read more