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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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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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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150‚000 adults were reported with RDS meaning about one person out of 6‚800 has RDS. It is very important to be careful with this syndrome because if an infant or breathing machine tried to apply some pressure to the lungs there is a high chance of it to rupture causing air to leak making the lung collapse sinking in even farther which turns it into a more severe case‚ usually this can be seen with the help of a chest x ray
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Charge Syndrome Introduction Charge Syndrome is a specific collection of non-randomly occurring congenital anomalies. The acronym CHARGE actually stands for the major features of this syndrome. The letter C stands for coloboma of the eye‚ H is heart defects‚ A stands for atresia of the choanae‚ R is retarded growth and development‚ G stands for genital abnormalities and lastly letter E stands for ear anomalies and/deafness. The cause of this syndrome may be genetically heterogeneous‚ but
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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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METABOLIC SYNDROME LEARNING OBJECTIVES At the end of lecture students should know – Definition of Metabolic Syndrome – Visceral obesity is an indicator of the syndrome and an independent marker for CVD – Current and some potential future treatment options. METABOLIC SYNDROME CONCEPT (Not New) • 1923 - Kylin first to describe the clustering of hypertension‚ hyperglycemia‚ hyperuricemia • 1936 - Himsworth first reported Insulin insensitivity in diabetics • 1965 - Yalow and Berson
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Mental Illness Research Questions - Munchausen Syndrome What illness are you researching? Factitious Disorders Munchausen Syndrome Ganser Syndrome What is the definition of your disorder? What might be physical/noticeable characteristics of this disorder? Munchausen syndrome is a mental disorder where a person repeatedly pretends to have severe illnesses‚ when they actually are the ones causing the illness to themselves. Those who have this illness will mostly complain of physical pain‚ as opposed
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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‚ and physically during
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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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