Syndrome

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    Williams Syndrome

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    This is a test to screen a pregnancy to determine whether a baby has an increased chance of having specific chromosome disorders. The test examines the baby's DNA in the mother's blood. Williams Syndrome Williams syndrome is a rare disorder that can lead to problems with development. It is passed down in the offsprings of families. One of the 25 missing genes is the one that produces elastin, a protein that allows blood vessels and other tissues in the body to stretch. It is likely that missing a copy of this gene results in the narrowing of blood vessels, stretchy skin, and flexible joints seen in this condition. Symptoms of Williams syndrome are: Delayed speech that may later turn into strong speaking ability and strong learning by hearing. Developmental delay. Easily distracted, attention deficit disorder, also known as ADD. Feeding problems such as colic, reflux, and…

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    Angelman Syndrome

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    Angelman syndrome is a rare genetic disorder that affects around 1 in around 12,000-20,000 live births and affects both males and females equally. Angelman syndrome is very often misdiagnosed as autism or cerebral palsy. Angelman syndrome is not an inherited disease, and is instead caused by a change in the E3 ubiquitin protein ligase gene (UBE3A) on the maternal chromosome 15. This change prevents the chromosome from functioning properly. It occurs as a random event during the formation of eggs…

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    Downs Syndrome

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    What Is Downs Syndrome 1. Introduction Down syndrome is a genetic condition which causes a certain level of characteristic physical appearance and a disability in learning. The genetic condition is produced by a problem in gene and this takes place before birth. There is a certain grade of intellectual disability this differs between each person. Babies which are born with Down’s syndrome are diagnosed with the disorder after birth they are most likely to have below average weight as well as…

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    Goodpasture Syndrome

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    Goodpasture syndrome is classified as an autoimmune disease due to B and T-cell mediated responses that result in the patient’s body to development antibodies against its own normal tissue, specifically the basement membranes of the glomerulus (glomerular basement membranes) and of the lungs (alveolar basement membranes) More specifically, the antibodies are developed against the noncollagenous domain 1 of the alpha 3-chain of type IV collagen). The noncollagenous domain 1 alpha 3 chain of type…

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    Savant Syndrome

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    Savant Syndrome is something many people seem to be uninformed about. Savant syndrome is a condition in which a person with a developmental disability or central nervous system injury have genius like traits. This condition can present itself at the time of birth, or it can be acquired later on in life due to some type of injury or disease that affects the central nervous system. It tends to affect males more frequently than women, and it is also known to appear in individuals with autism.…

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    Asperger Syndrome

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    What is Asperger syndrome? Asperger syndrome is one of the many forms of autism. An individual who has Asperger syndrome may seem just like any other person when it comes to their intelligence, but they lack in the department of having social skills. They also have a habit of being very obsessive on one topic or they might tend to perform similar behaviors over and over. In the year of 2013 doctors discovered that Asperger syndrome was classified in a different way. “It is now part of a broader…

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    Williams Syndrome Essay

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    Overview: What is Williams Syndrome? Definition: Williams Syndrome is a genetic disorder, resulting from the deletion of 26 or more genes one chromosome number 7 (Mervis et al., 2000). That seemingly small loss can affect numerous parts of a person’s physical and mental health, as well as social behavior and sensory perception (Genetics Home Reference, 2014). Diagnosis: Williams Syndrome is a genetic condition that a child is born with and it can impact a child’s prenatal development as well…

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    Down's Syndrome

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    “Down syndrome is found in 1 out of 800 births in the United States of America. 90 percent of people with Down’s syndrome live over the age of 5 years old. The occurrence of Down’s syndrome in young children to young adults was 1 in 971.”(American Academy of Pediatrics, 2009). Around half of children with Down’s syndrome have congenital heart defects and this disorder increases the risk of having leukemia. The risk of a child having Down’s syndrome increases after the age of 35 in mothers.…

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    Down Syndrome

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    Down syndrome affects 1 in every 691 births, a condition sometimes called trisomy 21, where a child inherits an extra copy of chromosome 21. Children born with Down syndrome have distinctive features such as: weak muscle tone, a small mouth held partially open because it is not big enough to accommodate for the tongue, and distinguishing eyelids. More serious deficiencies comprise of low resistance to infectious diseases, heart abnormalities, and fluctuating levels of mental retardation, in most…

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    Asperger’s Syndrome is a condition that’s widely known throughout the world. Asperger’s exists as part of the autism spectrum but differs in the early development of language from other developmental disorders. Asperger’s Syndrome and high functioning autism are often referred to as the same condition. Individuals with both Asperger’s and high functioning autism have average or above average intelligence, but may have issues involving social situations and communication. However, these are two…

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