Patau Syndrome Research Paper

Noonan syndrome is a disorder caused by a genetic mutation that causes various parts of the patient’s body to develop abnormally. The condition occurs when a parent passes on an affected gene to their child that produces constantly active proteins, leading to a disruption in the process of normal cell division and growth. Science currently knows of eight genes in which a mutation can cause the disorder. In some cases, there is no family history and the mutation is spontaneous.

I am choosing to learn more about Dravet Syndrome which is a type of epilepsy. I have chosen this disease because I met a girl at work who is about my younger brothers age who has this. Her parents came in asking if we would do a fundraiser for her and I got to spend time with them and learn more about this disease. We held a fundraiser at Rita’s and helped raise over $150 and taught people about her disease.

Cotard's Syndrome is an uncommon emotional instability which exists in patients with depression, schizophrenia, and psychotic disorder created by a general restorative condition, and it is frequently connected with dementia. Patients denies their existence, the presence of a specific body part, or the presence of a bit of their body. Delusion and hallucinations are the primary manifestations, yet others, for example, depression and anxiety happen by and large.

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.

Hutchinson-Gilford Progeria syndrome, also known as HGPS, or Progeria, is a very rare genetic disease caused by a mutation in the cell. In 1886, Jonathan Hutchinson first reported case of a 3 ½ year old boy who had the appearance of an old man. In 1897 Hastings Gilford reported a second case with similar features. However, this mystery disease didn’t have a name until 1904, when it was named after the two men. People who have HGPS usually star showing symptoms by the age of 2, and only live to be a teen-mid-20s.

This syndrome is not very common, because it is a rare condition. Its prevalence is not certain, but the proximate amount is 5 to 10 individuals per million newborns. Research workers appraise that there are approximately 200 to 300 individuals around the world who have this disorder. It is observed with equivalent recurrence in both males and females over all ethnic groups.

"Trisomy 13." National Institutes of Health. U.S. Department of Health and Human Services, 17 Mar. 2016. Web. 17 Mar.

PKU, also known as Phenylketonuria, is a genetic disorder that builds up the amino acid phenylalanine in the human body. This genetic disorder is known to be an example of the norm of reaction. The norm of reaction defines itself as a phenotype range that a person with a certain genotype reveals due to the differing of a certain environmental condition. Since this genetic mutation targeted the gene that encrypts the enzyme phenylalanine hydroxylase, it shows that if a person has one and/or two copies of that certain gene, that person would have the ability to eat and metabolize foods with phenylalanine. But, if a person has two copies of the mutated gene, they wouldn’t be able to eat nor metabolize foods with phenylalanine because if a person with PKU were to ingest foods with phenylalanine, the amino acid will accumulate in their body and become highly toxic to the person and the PKU homozygotes will lead to an assortment of detrimental symptoms, which currently occurs in about 1 in 10,000 babies.

Plica syndrome is a painful knee condition. Plica syndrome happens when folds of tissue in the knee called plica get swollen and rub against the kneecap or thigh bone.

Noonan syndrome is an autosomal dominant genetic disease that affects facial characteristics, heart, skeletal formation, stature, and may other areas of the body. Approximately 1 in 1,000 to 2,500 people are affected by Noonan syndrome. Those affected by this disease have deep grooves around their mouth and nose area, low ears, and wide eyes. Other distinct features of Noonan Syndrome include shorter necks, excess skin around the neck, and low hairlines. A common heart defect associated with this disease is the narrowing of the value that controls blood flow from the heart to the lungs. Although an individual may be affected by this syndrome, most still have a normal intelligence. A mutation occurs on the PTPN11, SOS1, RAF1, KRAS, NRAS,

Addiction is a word that many people would associate with the body and its craving of a substance of any kind. Many individuals feel as if being dependent upon a substance is something that could be preventable and that the human body can live without. Though most substances an individual is addicted to are not needed to live a healthy life, the addiction could potentially kill that individual. Other substances such as food, one cannot live without. Food, unlike other additions, is a substance that the human body needs to survive. In recent years, there has been an upcoming epidemic regarding the obesity rate and the need for individuals to understand that lack of exercise and the increase in amount of unhealthy food is killing them. However, in some cases it may not be the lack of exercise and the unhealthy food choices alone that is keeping some individuals in a category labeled obese; conversely it could be a genetic condition keeping them that way.

There are many different options for pregnant women regarding screening for trisomy 21. There are two more common types of tests available, nuchal translucency ultrasound with biochemistry testing in the first trimester, and cell-free DNA testing starting at 10 weeks until delivery. With these options come many questions about which one is more accurate in

Cru-du-chat syndrome (AKA 5p-) is a syndrome that causes a person to cry like a cat. This disorder’s caused by a person’s short arm (p)’s chromosome 5 getting deleted. The symptoms of this disorder are, including but not limited to: intellectual disability, low birth weight, microcephaly, hypotonia, hypertelorism, low set ears, a small jaw, and a rounded face.

The world of psychology remains an ever-growing force, affecting humankind constantly with the capability to shape or change a person's overall cognition and behavior.  Frequently, psychological disorders or conditions arise due to the normal anatomy or physiology of the brain being altered, manipulating or even magnifying the average person's state of mind.  Upon delving into the expansive realm of psychological conditions, I had discovered a rather unique condition that evidently leads its victims to believe they are no longer among the living: Cotard's Syndrome (AKA Walking Corpse Syndrome).  In short, it goes without saying that the grotesque delusions of this syndrome are undeniably captivating, which drew me in with

The reporter stated Ms. Allen was given a medical examination referral to the Children Safe Center; the referral was for Denisha to see an examiner on 06/01/16. The reporter stated Ms. Allen missed the appointment and a second appointment was made for 06/15/16. Ms. McCallup stated she' received information on 06/15/16, that the child was a no show. According to the reporter, Ms. Allen has transportation. The reporter state Pike County office is familiar with the child and her case. The reporter also added that the child has been diagnosed with 5P- syndrome, but it's unknown if she's been prescribed any medication.