Genetic Disorders: Angelman Syndrome

This syndrome is tested at birth with fluorescent in situ hybridization or FISH. With blood samples, they test the blood for the deletion of chromosome 7. FISH checks if many as of 22-26 genes are deleted. Because there is no cure for this syndrome, you will most likely have physical therapy and early education to help early development symptoms like speech delays and heart problems. This syndrome is not caused by environmental factors, it is completely genetic and NOT the parents fault.

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.

The purpose of this paper is to discuss the effects of the disorder and how genetics and biochemistry work together to create this

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.

Muscular dystrophy (MD) is a genetic disorder caused by incorrect or missing genetic information that leads to the gradual weakening of the muscle cells. Various causes lead to weak and deteriorating muscles depending on the type of muscular dystrophy the patient was affected by. However, there are many causes for muscular dystrophy due to the fact that there are thirty forms of muscular dystrophy, which are categorized under several categories. All are ultimately caused by autosomal recessive, autosomal dominant, sex-linked, and random mutations in very rare cases.

Developments in medicine have negatively impacted natural selection by causing an increase in genetic disorders. A genetic disorder can occur for many reasons. Sometimes chromosomes are missing or doubled. In other situations, the genetic code on chromosomes can get altered due to an anomaly when the RNA processes the information. Important information can be deleted, swapped, or completely altered. It is because of these changes in chromosomal DNA that changes in species come about. Genetic disorders are the negative effects of mutations in genes. For example, Sickle-cell anemia is a blood disorder which

Angelman Syndrome is a rare and uncommon brain disorder that occurs once in about every 15,000 births. This primarily affects the nervous system. Many symptoms occur because of the loss of the function of a gene called UBE3

From Cystic Fibrosis to Down’s Syndrome and Sickle Cell Anemia, there are tens of thousands of genetic disorders, with many more to be discovered. The fascinating thing about genetic disorders is that when we were born it’s a gamble whether or not we would come into this world with a genetic disorder. Although genetic disorders are quite rare and we take being born without one as granted, there are many out there that live with these disorders everyday. My research paper will focus on the specificalities of a few genetic disorders, the disorders presented in my paper are Marfan Syndrome, Hutchinson-Gilford Progeria, Cystic Fibrosis, and Sickle Cell Anemia. My paper will encompass important specifics

What is a genetic disorder? A genetic disorder is a disease Inherited medical condition caused by DNA abnormality. The genetic disorder is caused by change or mutation. The name of this disorder is called autism. Developmental Screening and Comprehensive Diagnostic Evaluation is two types of how it gets diagnosed.

Angelman syndrome was first described in the 1960’s as “happy puppet syndrome” by Harry Angelman, a pediatrician.3 This genetic disorder is characterized by severe developmental delay, seizures, hyperactivity, uncontrollable laughing and smiling, ataxia, speech delays, and sleeping disorders.4 Phenotypical characteristics that are a concern for anesthesia include microcephaly,

The Asherman’s syndrome, which is also known as intrauterine adhesions, is related to one of the most common surgical abortion procedures used by the society today- Dilation and curettage (D&C). “Dilation” refers to the opening of the cervix; “Curettage” refers to the process of clearing any remaining tissue on the uterus lining after an abortion by a surgical instrument called the curette.

A genetic disorder, such as DiGeorge syndrome, is an illness caused by one or more abnormalities, which can be passed down through parents, DNA, or mutations. DiGeorge syndrome (DGS) is a rare type of a genetic disorder which is caused by the deletion of chromosome 22. DiGeorge syndrome affects many parts of the body and has a prevalence of 1: 4000

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

There are many types of genetic conditions. Genetic mutations cause these genetic conditions. Genetic mutations can occur if there is an extra chromosome in a gene, if there is a missing chromosome, or even if there is a distorted chromosome. Some genetic conditions include autism, food allergies, and Down syndrome.