Research Paper On Noonan Syndrome

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.

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.

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.

Noonan Syndrome is an autosomal dominant disorder, which is inherited by the mutation from one affected parent. So it is not like someone choses to have this disorder, it just gets passed down to them. Since this disorder is caused by a mutation in the genes, there are some other cases that result from

Kim Jong Un’s son, K.J. Jr. shocked the world by being born with the Noonan Syndrome! The Noonan syndrome is a condition that normally involves disabilities such as a heart problem found from the start of birth, short stature, a webbed neck, or chest deformities may be seen as well (. This is extremely depressing because K.J. Jr. amazingly beat the odds of one in 1000-2500 births that will have this type of genetic syndrome (Noonan Syndrome Support Group)! The Noonan syndrome is inherited along with birth and anyone may be born with the syndrome regardless of gender. This disease is often found in Canada, Holland, and the United States (Noonan Syndrome Support Group).

In the Article Common Genetic Disease Linked to Father’s Age scientist from the University of Southern California observed new cases involving the Noonan Syndrome. In their study, they noticed that more cases of this disease are becoming more common in older men. Noonan Syndrome, formally heard of as the Turner-like Syndrome is a genetic mutation that affects many areas of the body. According to the article, “The disease can cause facial abnormalities, short stature, heart defects, intellectual disability and sometimes blood cancers.” More importantly, What is the cause of this disease? And, Why is it becoming more common? In some cases, an affected person inherits the mutation from its parent. However, scientist have found that in other

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,

Marfan Syndrome is one of the most common inherited disorders of connective tissue. Marfan Syndrome is a disorder that happens with your connective tissue. This disease is inherited or caused by a mutation in the FBN1 gene. The most common symptom of Marfan Syndrome is Myopia.

A genetic disorder is a genetic condition, originally caused by a DNA abnormality. Genetic disorders can be inherited or can form early, in the development of child’s womb. Marfan syndrome is a genetic disorder that affects the body’s connective tissues in many parts of the human body. These specific connective tissues are made with the help of fibrillin, to produce elastic fibers, which are essential for connective tissues. The connective tissues are the tissues that provide strength and flexibility to many structures such as the bones, blood vessels, ligaments, muscles, and heart vessels. Connective tissues also allow the body to grow and develop properly. Marfan syndrome occurs when there is a mutation in the gene, specifically what tells

Imagine being uncomfortable and made fun of your whole life that’s what people with proteus syndrome have to deal with. Proteus syndrome is a genetic disorder that makes you have an over growth in bone, skin and other tissues. This syndrome can also make you have big legs. Proteus syndrome is strictly a mutation in the akt1 gene on the 14th chromosome. This syndrome is not inherited what so ever. Symptoms of the proteus syndrome is over growth in bone, skin and other tissues. This can make it difficult to do anyting

Trisomy 13, also known as Patau Syndrome, is a genetic disorder occurring in about 1 in 12,000 to 16,000 newborns. Trisomy 13 is the second most common trisomy, behind Trisomy 21, or Down Syndrome. Patau Syndrome is caused when a zygote develops with three copies of chromosome 13 instead of the normal two copies. Although Trisomy 13 is usually the result of three copies of chromosome 13, it can also be caused by part of an extra chromosome 13 (partial trisomy 13), or the presence of extra chromosome in only some cells (mosaic trisomy 13), although the latter two forms are rare.

What is Marfan Syndrome and who named it that name? Marfan Syndrome is named by Antoine Marfan, 1 the French doctor who first described this disorder in 1896. Marfan Syndrome is somewhat rare. 2 Roughly one in 3000 to 10000 individual people would have the syndrome. 3 It happens equally in males and female.4 Marfan Syndrome (MFS) is a genetic disorder that affects the body's connective tissue. People who are infected by tend to be tall, thin, with long fingers and toes.4 Not only long fingers and toes are damaged but also flexible joints and scoliosis (curved spine). Marfan syndrome (MFS) has a lot of signs and symptoms, causes and treatments.

Marfan syndrome is a very common inherited disorder of connective tissue. It is an autosomal dominant condition occurring one in every 10,000 to 20,000 people . There is a wide variaty in clinical symptoms in Marfan syndrome with the most occur in eye, Bones, connective tissue and cardiovascular systems.

Marfan Syndrome is a disorder that affects the body’s connective tissue. Connective tissue holds all of the body’s cells, organs and tissues together. When the connective tissue is affected it slows down growth and breaks down muscle strength. Connective tissue is also considered the glue of body because its purpose to hold all bones, muscles and joints together. It also plays an important role in overall growth in muscles and bone. A French doctor named Antoine Marfan discovered the disease in 1896. About 1 in every 5,000 children are born with Marfan Syndrome each year and it affects both men and women.

Also known as Patau Syndrome, Trisomy 13 is a genetic disorder in which the person gets three copies of chromosome 13, which in normal cases, is two copies. This extra copy of chromosome may cause neurological and heart defects making it challenging for infants to survive.