Denisse Simonian
Period 6

ANGELMAN SYNDROME (Sick Genes Activity)
-Symptoms:
Developmental delays, such as lack of crawling or babbling at six through 12 months.
Lack of or minimal speech.
The inability to walk, move, or balance well.
Trembling movement of arms or legs.
Laughing or smiling a lot.
Happy or excitable personality.
Seizures, also known as epilepsy.
Lots of jerky movements.
Small head, also known as microcephaly.
-Type of Genetic mutation:
This is a neuro-genetic disorder.
Its an example of genomic imprinting. It happens by deletion or activation of genes on the maternally inherited chromosome 15. The paternal copy is silenced.
-Type of Genetic Relationship/ Inheritance:
This is an autosomal recessive syndrome. This means that it occurs in one of the autosome chromosomes (number 15) and that it is recessive.
-Causes:
Its caused because part of the maternal chromosome 15 is missing or is damaged.
Sometimes, it can be caused when two parental copies of a gene is inherited. So it doesnt have one from mom and one from dad like its supposed to. It just has two copies of the gene from dad.
Its protein E6-AP.
Its when it doesnt have gene UBE3A on chromosome 15. A segment of the maternal chromosome 15 containing this gene is deleted.
-Epidemiology:
This is not percisely known.
It is an uncommon disorder.
It usually occurs one in every 10,000 to 25,000 children.
Typically, a diagnosis occurs between the ages three to seven.
-Diagnosis:
Its detected when parents start to notice developmental delays when the baby is six through twelve months old. Seizures may also happen when the child is two to three years old.
-Prognosis:
People with this disorder have normal lifespans.
They dont show developmental recessions as the age.
-Treatment:
This disease has no cure because you can not repair chromosome defects.
People can take anti-seizure medication, physical therapy, communication therapy, and behavior therapy.
-Fun Facts:
Harold Angelman discovered this disease in 1965.
It was first called Happy Puppet syndrome because of the characteristics of the individuals who have the disorder.