Angelman Syndrome

This syndrome is from a mutation of a gene on chromosome 15 and this causes problems in the production of fibrillin-1 which is a protein that is an important part of connective tissue. The name for the gene is FBN1. Basically, it is the “glue” that helps to support the tissues in the human body. A child born to a parent with this syndrome has a 50% of having it. However, in the remaining 25%, neither parent has the disease which gives them a 1 in 10,000 chance of having a child with this disorder. When a child of two unaffected parents is born with it then the genetic mutation occurs in either the egg or sperm cell at the time of conception.

Angelman syndrome is thought to be caused mainly by the deletion of the maternally inherited copy of UEB3A. A small number of cases are also caused by failures in imprinting or, very rarely, monosomy 15 in the egg and disomy 15 in the sperm. The profound mental effects are caused by this gene due to the fact that, while UEB3A’s protein is active in various bodily tissues, only the mother’s copy of the gene is active in the brain.

August Pullman is a 5th grader that has Treacher Collins syndrome. It’s a disease that causes someone’s face to be deformed. This prevents Auggie from going to school. But his family wants him to try it out. He has some good times but most of the time, he doesn’t enjoy it. In this essay, i will be talking about the times that he wasn’t enjoying it. And for these reasons, that’s why i choose for him not to go to school .

Angelman Syndrome: Angelman system is caused by genetics inherited from the mother. A person’s body and appearance is all decided by a component within a person’s

Noonan Syndrome is the result of a chromosomal abnormality. This specific type of abnormality can only be detected by deep molecular testing of the parents and the offspring who has been affected by Noonan syndrome. Detection then becomes a tricky process as the signs and symptoms of the defect can be misdiagnosed as their individual appearances. A short stature can be seen as just a physical abnormality, the same for eye spacing and other physically noticeable attributes. The heart diseases can be seen as completely separate problems as well. For this reason cases of Noonan syndrome can persist into a person 's adult life completely undiagnosed. Detection therefore relies on the parents being genetically tested before ever conceiving.

Angelman Syndrome was first discovered by Harry Angelman, a Physician in 1965, when he witnessed three young children who represented similar symptoms. They all had bright, happy personalities, along with stiff movements, lack of speech and seizures. While in Italy for the holidays, Harry Angelman visited a museum that showed a picture of a puppet that had the same physical appearances as his patients. He diagnosed his patients with Happy Puppet Syndrome, which would later be known as Angelman Syndrome. In 1987, Ellen Magenis, who is also a physician, identified children who seemed to have Prader-Willi Syndrome, a similar genetic disorder to Angelman Syndrome. The difference between Angelman Syndrome and Prader-Willi Syndrome, is that Angelman Syndrome can be caused by the deletion of the maternally derived chromosome 15, while Prader-Willi Syndrome is the deletion of the paternally derived chromosome 15.

Angelman syndrome (AS) and Prader-Willi syndrome (PWS) are both congenital neurological disorders that cause physical and mental impairment. There are many ways to get AS and PWS, but genomic imprinting is the most common cause. AS is typically misdiagnosed as Cerebral Palsy or Autism and symptoms for AS and PWS may vary between patients. There is no cure for AS or PWS, but physical and mental therapy can help.

FBN1 mutation scanning/ Sequence analysis – this test detects sequence variants and has a mutation detection frequency of 70 – 93%.

Two hundred and eighteen million dollars are spent on Autism each year, but for a Syndrome called Angelman Syndrome less than five hundred thousand dollars are spent. Louie is a young thirteen year old male from davidson county, he has Angelman Syndrome, also known as AS, or “Puppet children”. AS is a rare congenital disorder characterized by mental disability and a tendency toward jerky movement, caused by the absence of certain genes that are normally present on the copy of chromosome 15, inherited from the mother. Most kids with Angelman Syndrome don’t sleep well, but Louie sleeps all on his own for a decent amount of time. His parents have to have someone that sleeps at the house so that they can help out with Louie. She watches him twenty hours a week. Even though Louie has this disorder he is still doing many things just like children who don’t have the syndrome, Louie is a great kid!

magine taking your child to a doctor for their physical, and they state that your child has risk factors for autism. This statement can be devastating but a parent, but it’s possible that it could be incorrect. Not only are some of the behaviors from mental disorders be identical, but there are government commissioned reports that state that many Americans will receive “at least one false diagnosis” during their lifetime (Mundell). While behavioral factors are currently considered when diagnosing someone with autism, a patient’s genetic information deserves a key role in the diagnosis. This will assist in reducing the risk of false diagnoses. It’s important for Doctors to analyze a patient’s risk for unintentional genome replication, the ratio

According to Battaglia, once the diagnosis of idic 15 is suspected through the chromosome study, the second step performed is an additional genetic test, called FISH (Fluorescent in situ hybridization)which is ordered to confirm the diagnosis by distinguishing idic 15 from other supernumerary marker chromosomes [Orphanet Journal of Rare Diseases]. Most babies, my niece Madison included, with idic 15 do not have any obvious external physical features that would suggest they might have a chromosome disorder. However, they may have low muscle tone, seizures, or extra skin at the corner of the eye that could prompt chromosome testing during

Angelman syndrome is a genetic disorder that primarily affects the nervous system. AS is the loss of the normal maternal contribution to a region of chromosome 15, mostly commonly by deletion of a segment of that chromosome. Characteristics cause problems such as developmental disabilities and neurological problems, such

In order for doctor’s to find out if a baby has Trisomy 18 they will get a sample of the baby’s DNA. They will then take a karyotype (picture of a person’s chromosomes) and see if there is three chromosomes on chromosome 18. There is no pacific treatment for Trisomy 18 and usually is fatal and many die before birth or by the time they are one. People will usually get a Palliative

Achondroplasia can be found during pregnancy with a fetal ultrasound. DNA testing has become more common over the past few years. It is used before birth for parents who have a higher chance at having a child with the homeostatic imbalance. Genetic testing is used when a doctor suspects something wrong. The tests search for the abnormal gene from a sample of amniotic fluid. If no signs of achondroplasia are found during pregnancy, the doctor will check the child’s features by looking at their legs, arms, and head to see if they

The characteristics typical of Angelman syndrome derive from the "loss of function of a gene called UBE3A" which is derived from the mother (Stรถppler 2012). "People normally inherit one copy of the UBE3A gene from each parent" and both are activated in most of the body (Angelman syndrome, 2011, Genetics Home Reference). However, "in certain areas of the brain...only the copy inherited from a person's mother (the maternal copy) is active...If the maternal copy of the UBE3A gene is lost because of a chromosomal change or a gene mutation, a person will