Williams Syndrome Research Paper

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.

They went to Washington to get money and help from Congress. While there, they got lucky and met Dr. Francis S. Collins and his wife Diane Baker. They agreed to help Sam and his family. They started at Chromosome 1 for answers. Dr. Brown already treated twin boys with troublesome chromosomes. The chromosomes split, turned over, and reattached themselves. This made them find flaws in skin cells. They narrowed it down to a specific spot on the chromosome. Next, they went online to find what genes were in that spot. They realized it was lamin A. This protein can sometimes lead to rare conditions and other problems. The researchers discussed the results together and tested patients. They came to the conclusion that the lamin A was the problem and named the protein progerin. They looked through reports and realized the protein was found in one of Collins’s own patients, Meg Casey. Collins realized she did not have progeria after all. She had mandibuloacral dysplasia

Noonan Syndrome is a genetic disease caused by a genetic mutation and is developed when a child inherits a copy of an affected gene from a parent with dominant inheritance. Noonan syndrome can also happen with spontaneous mutation. The mutated genes related to Noonan syndrome are PTPN11, SOS1, RAF1, KRAS, NRAS, and

Because the genetic change is not an inherited disorder but rather due to random error during development, there is no specific race, gender, or regions in the world that are affected more than the other (Cassidy, 2012). The most common abnormality associated with PWS is due to the deletion of the paternal chromosome 15, which is found in approximately 70% of cases. Another possibility is due to maternal uniparental disomy which occurs in about 25% of cases. This is when the child does not inherit the paternal copy of chromosome 15, but instead receives two copies from the mother. The last 5% of cases is another form of genetic imprinting where the father’s chromosome 15 is present, but are not functional known as microdeletion (Griggs, 2015). Although research has narrowed down the region of the affected chromosome, the specific genes that are involved have yet to be found. There are also no solid indicators as to how they play into the development of PWS symptoms (Khor, 2016).

There is currently no cure for Prader-Willi Syndrome however there are treatments and therapies to ease and stabilise associated symptoms of the disorder which majorly

Williams Syndrome is a rare genetic disease that occurs at birth and can happen to just about anyone. Williams Syndrome is caused by a genetic deletion of parts of chromosome 7. The syndrome is commonly linked to causing a child to having a number of different learning and behavioral problems, such as a delay in growth, attention deficit disorder, and a number of learning disabilities. Williams Syndrome affects around 1 in 10,000 people worldwide, equally in both male and females. Unlike many disabilities, Williams Syndrome actually makes a child incredibly sociable. There is no cure for the syndrome, nor is there a standard treatment in which a patient would follow today.

In order to understand what the genetic basis of Williams Syndrome, it is first important to define what genetic basis is. Genetic basis is the basis or root cause of the disorder or disease. In the case of Williams Syndrome, the genetic basis for the disorder is the deletion of over 25 genes at the q11.23 region of the seventh chromosome. This deletion is equivalent to about 1.6 Mb of data, according to a study done in the early 2000s, and has been recognized as altering the body and brain in significant ways despite such a small deletion (Meyer-Lindenbberg, 2004). The human genome is estimated to have upward of 19,000 genes that code for proteins and over 100,000 genes, which means 25 genes would be only .00025% of the human genome (Corl, 2013). This shows the importance of all of the human genes, but specifically in this case, these genes at 7q11.23. Now there is a debate, several journal articles contradict one other but the general trend among them is around 25 deletions of genes on the seventh

Those diagnosed with Williams’s syndrome are able to lead a full life with at home and in a school setting with the appropriate interventions. In the classroom providing the students with WS the tools they need to achieve their educational goals will allow them to reach them. Seeing the students receive the occupational and or physical therapy needed to keep the muscles moving as much a possible is one way to intervene. Other ways could consist of providing an aide to follow students to help teach and redirect if needed while learning the appropriate social skill they will need in life. By allowing the students to socialize with their peers in an appropriate way as much possible will ensure the students is comprehending what is being taught

As mentioned previously, Williams syndrome is a genetic disorder which results in the deletions of many genes on the seventh

In the 1960’s Research into the genetics basis of Down syndrome expands and they discovered that there were actually three different types of chromosomal anomalies that result in someone being born with the illness. They identified these anomalies, the first is trisomy 21 which is an extra copy of chromosome 21 which affects all the cells of the body, then you have Mosaicism which is some of the cells in the body have trisomy 21 and the other are normal. The last anomalies they identified Robertson Translocation which is one arm of the

The epigenetic changes as methylation at H19 seen in patients with BWS who develop Wilms' tumor are also seen in patients who develop Wilms' tumor without BWS. This indicates that the timing of epigenetic change may determine whether one develops a syndrome like BWS or a cancer. For example such a change in an early embryo can present as BWS and cancer predisposition whereas such a change in an embryonic precursor for an organ generates predisposition to cancer in that organ. Common pediatric embryonal tumor types can also be associated with BWS including rhabdomyosarcoma, adrenal cortical carcinoma, gonadoblastoma and neuroblastoma. We have recently shown that BWS cases with these tumors exhibit loss of methylation at DMR2 and not at DMR1. These data indicate that there are likely to be two distinct cancer-predisposing regions on 11p15 (Rosanna Weksberg et al.,

Named after Henry Turner, who in 1938 was one the first doctors to report his discovery in the medical literature on this disorder, Turner Syndrome (TS) also known as monosomy X. Turner Syndrome is caused by the complete or partial loss of one of the X chromosomes resulting in 45X chromosomes. This disease affects only girls and women. It is one of the most common chromosomal disorder and likely the most common genetic disorder of females (National Organization for Rare Disorders 2012). Individuals are usually diagnosed before birth, shortly after birth or during early childhood. It is important to diagnosis Turner Syndrome as early as possible.

Pedigrees were used to effectively track affected neonates and draw conclusions regarding inheritance. The most significant cytogenic study undertaken was chromosomal investigation to detect any anomalies, particularly those seen with Robert’s syndrome, to aid in the diagnosis.

The Turner Syndrome was discovered in 1938, Dr. Henry Turner was treating 7 different patients that were in between ages 15-23 that had deficient of sexual development. He try to help them by given them pituitary extracts but it wasn't enough. Turner Syndrome is a genetic disorder the X chromosome is missing or that is abnormal and it might not be caused by a growth deficiency. Its most common in women during during childhood mostly on the ovaries. Turner is a genetic disorder that you will find if you have it when you do a test blood. It can affect most of the pregnant woman even though they can know if the baby have the TS and test but it can not be cured. They can treat them and give them what they need and in some cases it will work and

A fetal echocardiography is done the same way a standard ultrasound is done on the abdomen or it can also be done transvaginaly. With this ultrasound they are looking specifically at the heart of the unborn child this test can show a better picture of the heart as compared to that of a standard ultrasound. In this test they look for the blood flow to the heart, the rhythm of the heart and the structures of the heart. Echocardiograms can also be done one Adults and children. This is also like a standard abdominal ultrasound except the transducer is placed over the person’s heart. They look at the same things as in a fetal echocardiography. They can also use a Doppler examination where they examine the blood flow direction and velocity. The Doppler examination uses high frequency sound waves to create the picture and also uses a Doppler effect to show the direction of the blood flow. The picture of the Doppler examination will show color images or even gray scale tracings of the blood flow. The most common type of echocardiogram is the Transthoracic echocardiogram. This is where they just move the transducer to different parts of the chest and abdomen to obtain different views of the heart. They also do a Stress echocardiogram and a Transesophageal