Williams Syndrome Study

Prader-Willi and Angelman Syndrome are two genetic disorders with vastly differing phenotypes linked by missing genetic imprints on the 15th chromosome’s q arm between regions 11 and 13 . While both orders result in mental deficits, their symptoms are otherwise segregated from the other in their entirety. The differences in the disorders are the result of differing DNA methylation patterns present in maternally and paternally inherited DNA. If the deletion occurs in the mother’s DNA, then Prader-Willi Syndrome appears. When the deletion occurs in the father’s DNA, Angelman Syndrome is the result.

Emanuel Syndrome is a congenital chromosomal disorder that can disrupt the development of multiple parts of the entire body. Though numbers are growing, in 2012, over 200 causes of Emanuel Syndrome have been reported in the United States (Zaki, Mohamed, Kamel, El-Gerzway & El-Ruby, 2012). The numbers of those diagnosed with this disorder are low due to the low incidence of this population, but also because of how new this disorder is. In 2004, Emanuel Syndrome officially got its name (Chromosome 22 Central, 2016). Before this time, individuals who had symptoms of this disorder were diagnosed with varying names such as, Cat Eye Syndrome, 22 Syndrome, or 22q11.2 Deletion Syndrome. In 2004, a support parent group for children with these

Prader - Willi Syndrome is caused by the deletion or not getting Chromosome 15 from the dad. This disorder

Trisomy 21, Turner syndrome, and Williams syndrome have also been found to be at higher

Prader-Willi syndrome(PWS) is a disease caused by spontaneous genetic mutations in chromosome 15 which is evident in the early development of a fetus. Specifically, there is a deletion or a loss of genes from that chromosome. Dr. Prader, Dr. Willi, and Dr. Lambert were the first people to describe the features of PWS in 1956. Since that first time, more and more information on Prader-Willi syndrome has begun to be understood (Encyclopedia, 2016). This genetic disease is capable

Trisomy 18 and 13 began to appear in literature in the early 1960's. During this time both of these diseases were considered fatal. A majority of the documented information obtained on these chromosome disorders was gathered from case studies. Even to the current day, these are very deadly syndromes that often kill within the first year of life but due to medical advances can now have life sustained (Nelson 2012). In a study from 1968 some of the clinical features of Edwards syndrome include an elongation of the

Jane has Pierre Robin Sequence (PRS) and a Chromosome 16q 24.1-q 24.3 micro deletion. The deletion of the 16q chromosome increases the risk of poor social skills, developmental delays and learning disabilities (Gillmore & Campbell, 2006, p. 229). PRS is sequence of disorders that present with recessed mandible, restricted airways, displacement of tongue and cleft palate (Gangopadhyay, Mendonca, & Woo, 2012). According to Gilbert (1996, p.234) usually this sequence causes only slight learning disabilities but produces other abnormalities that have “far-reaching effects “which can lead to learning disabilities. As with Jane, PRS can cause a gap between social understanding and an ability to express feelings appropriately or clearly, causing frustration and anxiety (Calen &

Other neurodevelopmental disorders which are less common are Fragile X syndrome and Williams’s syndrome. William’s syndrome comes into existence because of deletions/missing of small genetic material from chromosome 7.

Genetics pertains to humans and other organisms. (n.a, Genetics, 2016) According to Szatmari (Szatmari, 2003) genetics is a predominant part in autism and ASD’s. The transportation of the genes is a complex mode without any significant pattern. There are multiple genes acting together that causes the “complexity”. Through the research that Szatmari had done he found that certain regions that are on the chromosome are affected by autism. On chromosones 2, 7, and 13 there are certain regions in the autistics that were part of the research that carried the same “susceptibility”. There was postmortem studies done that shown that there was a larger area of white matter in the brain and there was minute “structural changes in cell density and alignment in the limbic system.” There had also been reported “atypical activation of the amygdala and surrounding structure in social

In general, numerous studies have identified consistent irregularities in various brain regions. Moreover, other studies have detected abnormal levels of serotonin or other brain neurotransmitters. According to the National Institute of Neurological Disorders & Stroke (2009), “These abnormalities suggest that ASD could result from the disruption of normal brain development early in fetal development caused by defects in genes that control brain growth and that regulate how brain cells communicate with each other, possibly due to the influence of environmental factors on gene function. While these findings are intriguing, they are preliminary and require further study.”

A human being is supposed to have 46 chromosomes organized into 23 pairs; however, just because a human being is supposed to have that many chromosomes does not mean that all humans are born with all of their chromosomes. Missing a single chromosome can cause anything from Turner syndrome to Down syndrome to even death. For a person’s body to be missing a chromosome would be like a person trying to make a homemade cake from scratch while missing part of the recipe. For women with Turner syndrome, their missing chromosome affects everything from their height to whether or not they can conceive children when they are of age.

The Prader-Willi syndrome is a rare genetic disease characterized by a series of physical impairment, intellectual and behavioural dependent on alteration of chromosome 15. During early childhood, the syndrome manifests with an unusual muscle weakness and with a developmental delay. Subsequently, during childhood, begin to arise other problems, such as the continued appetite, learning difficulties and behavioural abnormalities. Individuals with Prader-Willi syndrome are, very often, people who suffer from obesity, from which spring problems heart of various kinds. The latter are the leading cause of death.

The disorder affects 1 out of 40,000 newborns (Atlas Genetics). Almost 90% of patients with this disease have a parent with the disease, but the symptoms in the parent can be very different from the symptoms in the child (MedlinePlus). Waardenburg syndrome type 1 (WS1) and type 2 (WS2) are inherited as autosomal dominant traits, which means one copy of the altered gene in each cell is sufficient to cause Waardenburg syndrome (GHR). Manifestations of the disorder may not be present in individuals that inherit the altered gene for the disease. Some cases of the disorder, such as type 3 (WS3) and type 4 (WS4) have an autosomal recessive pattern of inheritance. Type 1 and type 2 of Waardenburg syndrome can also be acquired even when there is no family history of the disorder. The disorder can be caused from new genetic changes that occur spontaneously for unknown reasons. Researches indicate that new sporadic mutations for type 1 of Waardenburg syndrome may be associated with the advanced age of the father. In dominant disorders, a single copy of the gene with the disease that is either received from the mother of father will be expressed in the offspring by dominating the other normal gene, which causes the result in the appearance of the syndrome (Rare

The deletion of chromosome 22 plays a crucial role in the development of a person. Since the major functions of the body are affected, daily life of someone diagnosed with DiGeorge syndrome has an underdeveloped reading and spelling comprehension. By the ause of low-average spelling and reading cognition, children with DGS have different learning environments in school. Children with this syndrome have to be put in special classes, because they learn on different, slower levels. On the severity of the disorder, some children have special courses and classes in school so they can reach their full potential. Daily life of someone diagnosed with DGS can vary on the criticalness of the disorder (Simon).

A chromosomal disorder is caused by an abundance or reduction of genes on the chromosomes. This type of disorder may also be caused by structural changes within these chromosomes; this is known as an aneuploidy (Porth, 2015). The most common chromosomal disorder is Down syndrome of which there are three types: complete trisomy 21, translocation, and mosaicism (Porth, 2015). Since its first identification in 1866, researchers have become more knowledgeable about the etiology of Down syndrome. When one studies etiology, pathogenesis, and clinical manifestations of Down syndrome, he or she will begin to understand multiple chromosomal disorders.