Down Syndrome (DS) is a chromosomal disease affecting tens of thousands of individuals. DS is responsible for a wide range of health disorders‚ including‚ but not limited to‚ congenital heart disease‚ cancers‚ Alzheimer’s‚ and other phenotypic abnormalities (Asim et al.‚ 2015). Given its relatively high prevalence (1 in 900 births) in some locations‚ the impact of DS is high (Shin et al.‚ 2009). Trisomy 21‚ Mosaic Down Syndrome‚ and Translocation Down Syndrome are three instances of abnormalities
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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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published the first report on the symptoms of Turner Syndrome. It was published as “A Syndrome of Short Stature‚ webbed beck and infantilism”. It was a report on seven girls who shared similar features to each other. Dr. Turner helped with the advancement of treatment for the girls with the syndrome. He did this by pioneering the use of exogenous sex steroids for treating ovarian failure (“Years of Medical Advances in Turner Syndrome”) . Today‚ Turner Syndrome occurs in 1 in 2‚500 females worldwide. 15% of
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Rett Syndrome for Girls Only Rett syndrome is very rare neurological disorder that affects the brain. The disorder primarily effects girls only‚ but there has been reported cases of males with the disorder. The disorder is rare‚ it effects one in every 10‚000 to 15‚000 females‚ in all racial and ethnic groups. Rett syndrome effect one in every 100‚000 males. Rett Syndrome impairs the child’s speech‚ motor functions‚ daily activities‚ and respiratory functions. Rett Syndrome is usually diagnosed
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Klinefelter Syndrome is a syndrome in which a person has an additional X-chromosome. It is not life consuming‚ but rather people who have this syndrome can live perfectly normal lives proper treatment and care‚ if precautions are taken early on. Dr. Harry Klinefelter in 1942 first identified the syndrome. Now some may ask what Klinefelter syndrome is. Klinefelter syndrome is a syndrome in which a person inherits an extra X-chromosome making their genetic makeup xxy instead of the normal How it occurs
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Munchausen Syndrome 1 Running head: Munchausen Syndrome Munchausen Syndrome by Proxy 5 References Author: Ibrahim Abdulhamid‚ MD‚ Assistant Professor of Pediatrics‚ Wayne State University; Director of Pediatric Pulmonary Medicine‚ Clinical Director of Pediatric Sleep Laboratory‚ Children ’s Hospital of Michigan Coauthor(s): Patricia T Siegel‚ PhD‚ Assistant Professor‚ Departments of Pediatrics‚ Psychiatry and Behavioral Neurosciences‚ Wayne State University School of Medicine Contributor
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Kallmann ’s Syndrome ABSTRACT Kallmann’s syndrome is a rare disorder which affects predominantly man. Typical characteristics are a failure to go through puberty and an absent sense of smell. Although the disease is not life threatening‚ somebody with kallmann’s syndrome has an hormonal imbalance hypogonadotropic hypogonadism due to GnRH deficiency because a small area of his or her brain called the hypothalamus is unable to work properly. Specialised hormone replacement therapy is available
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Nephrotic syndrome is a group of symptoms including protein in the urine‚ low blood protein levels‚ high cholesterol levels‚ and swelling. The urine may also contain fat‚ which can be seen under the microscope. Nephrotic syndrome is caused by various disorders that damage the kidneys‚ especially the basement membrane of the glomerulus. This causes abnormal excretion of protein in the urine. This condition can also occur as a result of infection‚ use of certain drugs‚ cancer‚ genetic disorders
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Marfan Syndrome Wesley Thompson Jim Hutchins Biomedical Core 1110 November 19‚ 2011 Marfan syndrome is a variable‚ autosomal-dominant disorder in the connective tissue with distinct physical characteristics. The principal features affect the cardiovascular system‚ eyes and skeleton. This condition affects the connective protein that forms the structural support for tissues outside the cell. This disease is a result of a faulty makeup of chromosomes. Since MFS (Marfan Syndrome) is an
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In this imbalance research paper‚ it will discuss and explain of a certain disorder in the nervous system called Tourette’s syndrome. It will also acknowledge the current studies and research that can potentially find a way to cure this disorder. First‚ we need to more knowledgeable about this disorder. Tourette’s syndrome “is a nervous system (neurological) disorder that starts in childhood. It involves unusual repetitive movements or unwanted sounds that can’t be controlled (tics)” (Mayo Clinic
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