Case Discussion Beal’s syndrome (OMIM # 121050) is a disorder of connective tissues. The syndrome was first explained by Beal’s and Hecht in 1971. It is inherited as an autosomal dominant disorder that is characterized by multiple flexion contractures‚ arachnodactyly‚ severe kyphoscoliosis‚ abnormal pinnae and muscular hypoplasia. It is caused by a genetic mutation in FBN2 gene (encoding the extracellular matrix micro fibril fibrillin 2) on chromosome 5q23. The FBN2 gene provides instructions for
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Angelman Syndrome By Ciera Carr Dr. Glimps 2006 Carr 1 Ciera Carr Dr. Glimps Research Paper Angelman Syndrome Angelman syndrome is a genetic disorder that is caused by a couple of different attributes. The first one is “a deletion on chromosome 15 of maternal origin or paternal uniparental disomy”(Curfs‚ 2004‚ p. 1263). There has also been found that some people with the disorder have no deletion on the chromosome at all. Angelman syndrome was first discovered in 1965 by a doctor
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Gifted Students and Social Stigma Gifted Students and Social Stigma Philosopher Benedict Spinoza said‚ "Man is a social animal" (Kaplan 278). The desire for social acceptance‚ whether recognized or denied‚ is part of human culture. People yearn for it‚ obsess over it‚ and alter themselves to obtain it. Humans can spend their entire lives unsuccessfully attempting to achieve a level of social status they believe will validate them. Acceptance is denied for superficial reasons varying from clothing
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Cotard syndrome was named after Jules Cotard. A French neurologist he called the condition le délire de négation (“negation delirium”). There are multiple levels from mild to severe. Cotard had formed a new type of depression‚ where one denies their own existence. When the area of the brain that recognizes faces is disconnected‚ with the area that associates emotions with those faces. This can also be caused from major depression with psychotic features‚ schizophrenia‚ or organic
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Myelodysplastic syndromes have historically been subjected to incomplete definitions and biologic understanding of disease.1‚2 With the better understanding of this disease by morphology‚ cytogenetic evaluation and molecular testing it is now easier to categorize this disease. Myelodysplastic syndrome could not be described as a distinct syndrome until the first half of the 20th century when bone marrow biopsies were started in routine. Still‚ early suggestive reports can be found in the medical
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22q11.2 deletion syndrome‚ several tests have to be conducted in order to determine if this is in fact the cause. With our proband‚ it is clear that this is a case of familiar inheritance. As a clinician‚ is it important to start by asking about the patient’s current and past medical history‚ history of present illness‚ developmental and social functioning and obstetric history so we can get a more in depth understanding of the patient’s presentation (“22q11.2 Deletion Syndrome”‚ 2016). A physical
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| Stockholm Syndrome Brian Perry – G00059466 CJ416 Victimology 25 OCT 2010 Abstract Why is Stockholm Syndrome so prevalent in child abduction cases? What happens to the victim psychologically‚ emotionally
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conducted around the topics of crush syndrome and amputation‚ which depending on the severity of the crush can coincide with one another. This paper will discuss various medical aspects‚ treatment‚ assessment‚ psychosocial/psychological issues and some research data pertaining earthquakes related to amputation and crush syndrome. Crush injuries can occur through the means of a natural disaster‚ acts of war‚ traffic collisions‚ as well as industrial accidents. Crush syndrome differs from a crush injury depending
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1. What year was the first documented case? 1961 (Davis) 2. How was williams syndrome identified? Williams Syndrome was identified by physical and mental characteristics. (Davis) 3. Who was the doctor/Patient? Dr. J.C.P. Williams‚ a cardiologist in Auckland‚ New Zealand. (Davis) 4. Are there any famous people with Williams Syndrome? There aren’t any well-known celebrities with Williams Syndrome. 5. What body systems or part of the body does this disorder affect‚ explain how
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Jacob’s syndrome 2 Anatomy and Physiology: Jacob’s syndrome Over the past 40 years people have been aware of Jacobs’s syndrome‚ a rare chromosomal genetic syndrome which occurs when a male receives an extra Y chromosome‚ resulting in a sequence in XYY. Males normally have XY and females normally have XX sequencing 1. Chromosomes store genetic information in all human beings. There are 23 pairs of chromosomes and 46 in total. On the 23rd pair holds the sex chromosomes which also store genetic information
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