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Angelman syndrome is caused by a deletion or mutation of a gene called UBE3A on chromosome 15. This gene is important for normal brain development and function, and its loss results in the characteristic symptoms of Angelman syndrome, including developmental delays, intellectual disability, and movement problems. About 70% of cases are caused by a deletion on the maternal chromosome 15, while other cases can be caused by mutations in the UBE3A gene.
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Which organism causes toxic shock syndrome?
Toxic shock syndrome is commonly caused by the bacterium Staphylococcus aureus. This bacterium produces toxins that can lead to the symptoms associated with toxic shock syndrome when it infects certain areas of the body, such as wounds or tampons.
What is the Effects of nondisjunction?
Nondisjunction can lead to abnormal chromosome numbers in daughter cells, resulting in conditions such as Down syndrome, Turner syndrome, or Klinefelter syndrome. This can cause developmental issues, intellectual disabilities, and various physical abnormalities in affected individuals.
Is gene therapy a possiblilty for marfan's syndrome?
Gene therapy is being explored as a potential treatment for Marfan syndrome, as it has the potential to correct the underlying genetic mutation that causes the condition. However, further research is needed to determine its safety and efficacy before it can become a standard treatment option for Marfan syndrome.
How long does stickler syndrome last?
Stickler syndrome is a genetic disorder that is present from birth and persists throughout a person's life. The symptoms and severity of the condition can vary widely among individuals, but the genetic mutation that causes Stickler syndrome is lifelong. Treatment is focused on managing symptoms and complications associated with the syndrome.
How does a person receive turner syndrome?
Turner syndrome is a genetic condition that typically results from a missing or partially missing X chromosome in females. It is usually not inherited and occurs randomly.
Who discovered angleman?
Dr. Harry Angelman in 1965
What is the type of mutation that causes Digeorge syndrome?
Deletion Mutation causes DiGeorges Syndrome.
What causes Behcet's syndrome?
The cause of Behcet's syndrome is unknown
What causes bor syndrome?
no
What is angleman's syndrome?
Angleman syndrome is where your DNA is either not fully there or you have an extra part. If not all of it is there it makes some of the parts of your brain not develop as well. If you have an extra piece than it doesn't make a protein that causes the parts of the brain to develop. either way If you have it you may not talk at all or talk very late in your life. If you do talk you will not talk as often or as much and it will never be your number one source of communication. You might use sign language or a communication book. you also have jerky movements and seizures, you will have very happy facial expressions because the part of the brain that deals with frowning and being sad isn't very developed. Some other things you may have include... Global Developmental Delays, Hipotonia, Acid reflux, Epilepsy, and others.
What causes photophobia?
ICE Syndrome
What are some common causes of retardation?
There are many causes of retardation. These includes Down syndrome, velocariofacial syndrome, fetal alcohol syndrome, problems during pregnancy and other genetic disorders.
What causes sudden chills?
in your legs, if that's it you have r.l.s syndrome or (restless leg syndrome)
What causes Wolf-Hirschhorn syndrome?
hey
What pathogen causes Down syndrome?
bacteria
Does multiple myeloma causes nephrotic syndrome?
no
What does Reye's syndrome cause?
Reye's syndrome causes fatty accumulation in the organs of the body, especially the liver. In the brain, it causes fluid accumulation (edema ),
