Noonan Syndrome Case Study

The chromosomal abnormalities include turner's disease, laron dwarfism, noonan syndrome, sinotina wiley syndrome, russell xifushi, mutation / deletion of the short stature homeobox-containing gene, and skeletal dysplasia.

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.

Trisomy 13 is a very terrible disease to have. The disease causes many deformities. You would have a very deformed body. The disease happens when there is a third thirteenth chromosome. Instead of the normal two, there would be three. The symptoms are heart, brain, spinal cord, and bone abnormalities, also a hole in the iris lip and pallet. Along with those are small head, eyes, and lower jaw, then there is close-set eyes that can fuse into one and low-set ears.

Benjamin is a 12-4/12 year old boy with Velocardiofacial syndrome, who has been followed for quite some time. Benjamin presented with concerns of micropenis, as well as growth failure. As you can see from the attached penile growth curve Benjamin does in fact have a micropenis with a measurement that is significantly below the normal curve. With respect to his height, he was monitored and fell from 50% to just above 10% on the growth curve. He subsequently underwent growth hormone stimulation testing which he failed with a peak growth hormone response of 2.4ng/ml. Clearly, the failed growth hormone stimulation test and the micropenis are consistent with diagnosis for growth hormone deficiency.”

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).

The treatment depends on their specific symptoms. If an individual’s heart is affected, then they would be treated just like any other individual with a heart condition. If they have growing problems it is most likely due to the fact that they don’t have enough hormones. If that is the case, then the individual would be given growing hormones as a treatment. Early development disabilities are dealt with during therapy when the right equipment is present. If the individual had bleeding problems, then the treatment all depends on their

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

In 1996, the susceptibility locus for Cowden syndrome was mapped to chromosome 10q22-23, and in 1997, germline mutations in the PTEN gene (phosphatase and tensin homology, deleted on chromosome 10) on 10q23 were first reported in families with this syndrome. Hamartomas in Cowden syndrome affect all three germ cell layers but most commonly arise from ectodermal and endodermal elements. Almost all patients (90% to 100%) have mucocutaneous lesions that include trichilemmomas, acral keratoses, and oral papillomas. Breast lesions affect the majority of female patients and include fibroadenomas, fibrocystic disease, and adenocarcinomas (25% to 50%). Thyroid abnormalities, such as multinodular goiter and follicular adenoma, are found in one half to two thirds of patients. Thyroid carcinoma occurs in 3% to 10% of patients. Macrocephaly, cerebellar gangliocytoma, and genitourinary malformations are also frequent components of Cowden syndrome. Increased risks for endometrial carcinoma and renal cell carcinoma have been added to the operational criteria for Cowden

Noonan Syndrome is the most common syndrome you’ve never heard of. Noonan Syndrome is a genetic disorder that affects normal growth in different parts of the body. It is caused by a genetic mutation that is attained when a child inherits a copy of an affected gene from a parent. It affects a large amount of people all over the world.

The NF1 gene has been sited to the long arm of chromosome 17; more than 250 mutations leading to protein truncation having been detected in affected individuals.

Imagine a cancer that creates cancer. Lynch syndrome, which is also known as hereditary nonpolyposis collectral cancer (HNCC) is an inherited disease that is a passed down trait that increases your chance of colon cancer and other cancers as well. The cause is the trait being passed through families. There are no symptoms since it is simply passed down. They just have increased probability of developing bowel, colon and other cancers.

Jacobsen syndrome was discovered by Dr. Petra Jacobsen in 1973, as he describes a family with multiple members who had an unbalanced 11;21 chromosome, which had originated from a balanced translocation carrier parent. There are some patients with large deletions that can exhibit severe clinical manifestations and impairments, however, a few phenotypes reveal incomplete penetrance can differ greatly between several patients.

The language and communication of the affected individual appears to remain unimpaired. While the language may be unaffected, the development of children with Williams Syndrome often is slowed greatly (Purser, 2011). With a lower IQ and ability to problem solve, easy tasks prove to be a great challenge for children with this disorder and have significant developmental delays (Rebecca, 2016). Alongside developmental and neurological difficulties, this disorder greatly impacts the cardiovascular health of the individuals (Rebecca, 2016). The cardiovascular health of the individual is affected in several key areas such as: mitral valve disease, aortic coarctation, hypertension, and myocardial infarctions (Adams, 2012). These problems in cardiovascular can be linked to the gene deletions on the seventh chromosome because one gene that is deleted is the one that codes for elastin (Adams, 2012). Elastin is used in the body in connective tissue and throughout the body to help tissues expand and stretch in order to account for movement in the body (Ewart, 1993). This is especially important in the cardiovascular system because if the heart cannot expand and stretch it will rupture or collapse and cause severe damage if not properly treated in and quick fashion (Ewart,

How is this disorder diagnosed and treated?,the reason of this is because genetic disorder is caused by the presence of all or part of an extra 18th chromosome.However, John H. Edwards has

commendable. Nonetheless, in at least some problem cases, resort to genetic analyses may be especially contributory, specifically assessing mutations in or deletions (loss) of the NF1 locus on the long arm of human chromosome 174