Down Syndrome What is Down Syndrome? Where does it come from? Is there a cure? About one in every 800 American babies is born with Down syndrome‚ and it is estimated that about 350‚000 people in the United States‚ and just under 6 million people worldwide live with this condition today. There is a false impression that pregnancy screening has eliminated or substantially reduced the incidence of Down syndrome in the population. Despite years of screening‚ the Down syndrome population in the
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Turner Syndrome Turner syndrome affects 3% of all females prior to birth‚ with only around 1% of these ‘in utero’ cases surviving to term; it is not inherited from either parent‚ but purely a ‘chance’ mutation. Despite this‚ it has become the most common genetically determined abnormality amongst females‚ and can have detrimental effects on systemic wellbeing throughout life. Turner Syndrome is a sex-linked genetic disorder which only affects females‚ and can present symptoms in several organ
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Victoria Haskins Biology Honors Mr. Kelly March 6th‚ 2017 Edwards Syndrome Edwards syndrome‚ also known as Trisomy 18‚ is a condition caused by a mistake in meiotic cell division resulting in an extra chromosome 18 in a developing baby (Source 1). This condition disrupts normal development‚ potentially fatally‚ even before birth (Source 1). Major characteristics of the disorder include a delay in growth‚ a low birth weight‚ and other major medical complications (Source 1‚ Source 3). Professor of
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Turner Syndrome Allie Fitzgerald BIOL 150 11/22/11 Turner syndrome (TS) is a genetic condition in which a female does not have the usual pair of two X chromosomes (“What is TS?”). This condition was named after Dr. Henry Turner‚ who was one of the first researchers to describe the features of Turner’s Syndrome in 1930s. TS occurs in about 1 female out of every 2‚000 female births‚ but is much more common in miscarriages. A diagnosis of TS is made through a karyotype test. This is performed
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Korsakoff’s Syndrome Korsakoff’s syndrome is a disorder in which a lack of thiamine results in anterograde and retrograde amnesia — those with the disorder exhibit the loss of newly formed memories‚ and a degeneration in their ability to remember events from their past (Spiegel‚ Lim‚ 2011‚ p. 15). Found generally in alcoholics‚ the combination of their compromised metabolism and thiamine deficiency results in Wernicke’s Encephalopathy‚ which then progresses to Korsakoff’s syndrome (Thompson‚ Guerrini
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Savant Syndrome 1. How does Savant Syndrome help us understand the nature of intelligence? Savant Syndrome is an exceedingly rare phenomenon in which people with disabilities have remarkable abilities and talents. The uniqueness of this disease has enabled us to better understand the nature of intelligence and cognition. Savant syndrome helps us to better comprehend the specialization of the left and right hemispheres in our brain. Because savants are especially talented in areas such as numbers
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Cushing’s Syndrome Cushing’s Syndrome is a condition that results from chronic exposure to excessive amounts of glucocorticoids circulating in the blood stream for an extended period of time. The disease was first reported by Harvey Cushing over one hundred years ago‚ yet the condition still plagues endocrinologists today. Reasons for this difficulty include the vast amount of often vague symptoms that the syndrome presents‚ most of which are found in a plethora of other conditions as well‚ combined
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There are several cases of which a young woman has suffered from Turner syndrome and needed a way to help gain the height differences. One article by Toft and Rehan (2014) has opened the idea too using growth hormones to offset those height differences. The way the drug works is that it is released from the pituitary gland into the liver where it releases a insulin-like growth factor which tells the muscles‚ bones‚ and ligaments to grow (Toft and Rehan‚ 2014). In-fact there are ways that the growth
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Kartagener’s syndrome is an autosomal recessive disorder affecting the cilia within the body. Autosomal recessive means that one or more of both the parents’ genes responsible for encoding the cilia’s structure are mutated. This essay will focus on the etiology‚ clinical manifestations and anatomic alterations while also exploring diagnostic and treatment modalities. Cilia are the tiny hair-like structures found in many organ systems including the respiratory and reproductive systems. It was diagnosed
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Bloom’s Syndrome is a rare genetic disease known for affecting someone’s physical and genetic traits‚ this disorder can cause problems for whoever is diagnosed with it. Bloom’s Syndrome is a disease characterized by how its identified‚ its frequency‚ how it was discovered‚ its symptoms‚ and its treatments. Bloom’s Syndrome is identified as an autosomal disorder. An autosomal disorder is when the defected gene is carried on a chromosome other than one of the sex chromosomes. Bloom’s Syndrome happens
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