Genetic Project: Down Syndrome What is Down Syndrome? Down Syndrome is a chromosomal disorder where a child is born with an extra partial or full chromosome 21‚ thus leading to the over-expression of many genes present on this extra chromosome. Therefore‚ it is neither dominant nor recessive. Down Syndrome affects about 1 in 700 babies born‚ making it one of the most common genetic birth defects in the United States. There are actually 3 different types of Down Syndrome‚ Trisomy 21 (Nondisjunction)
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Aarskog Syndrome Description Aarskog syndrome (also known as Aarskog–Scott syndrome‚ faciodigitogenital syndrome‚ shawl scrotum syndrome and faciogenital dysplasia) is a rare autosomal X-linked inherited disorder that affects a person’s height‚ muscles‚ skeleton‚ genitals‚ and appearance of the face. It mostly affects at birth and the symptoms usually become apparent by the age of 3years. Unfortunately‚ Aarskog syndrome is a lifelong condition without a cure. Some people with Aarskog syndrome are born
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Prognosis The prognosis for Williams Syndrome is not bright in some areas and bright in others. Since there is no cure for this genetic disorder‚ treatment in no way can change the prognosis unless it is to alleviate a symptom of this disorder. Cardiovascular symptoms aside‚ individuals suffering from this disorder can live a healthy and long life if properly cared for and nurtured‚ but this is very rare. There are several ways to discuss the prognosis for this disorder and they are: life expectancy
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Asperger’s syndrome and the adverse effects of stigmatization 2 INTRODUCTION The Center for Disease and Control estimates that‚ “1 in 88 children has been identified with Autism Spectrum Disorder” and shows a 78% increase since 2007 (CDC‚ 2012). However‚ many children with Asperger’s are often misdiagnosed with mental illness‚ such as bipolar disorder or ADHD. A man named Sean Honeysett was misdiagnosed for nearly two decades‚ was prescribed anti-psychotic drugs‚ and was in and
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Fryns syndrome is a rare congenital disorder that affects the development of the body and is characterized by coarse facial features‚ diaphragmatic hernia‚ pulmonary hypoplasia‚ distal digital hypoplasia‚ and other various associated anomalies.. There is a 25 percent risk of recurrence and the prevalence of Fryns is 0.7: 10‚000 births in France [2]. It affects 1:15‚000 live births [3]. J. P. Fryns first described Fryns syndrome in 1979. It was first described with two still born female siblings
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How does a mother’s love turn into an obsession? Who will believe that a mother will harm their own child? Munchausen Syndrome by Proxy can be the answer to both of these questions. Munchausen Syndrome is a mental disorder that causes a person with a deep-seated need for attention to fake sickness or injury. Munchausen Syndrome by Proxy (MSP)‚ also called pediatric symptom falsification or factitious disorder imposed on another‚ is a disorder in which the caretaker of a child either makes up fake
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Stockholm syndrome and posttraumatic stress disorder. And‚ you know‚ I had no free will. I had virtually no free will until I was separated from them for about two weeks” (Patty Hearst). In 1974‚ Patty Hearst developed Stockholm syndrome after being kidnapped by an American communist group. She was dependent on her kidnappers and felt secure with them. Because of this‚ she followed the beliefs of the group and performed terrible tasks with her kidnappers. By definition‚ “Stockholm syndrome is a condition
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Affecting about one in every forty-thousand people‚ Waardenburg syndrome (WS) is fairly rare. It is an umbrella which includes four genetic conditions‚ all caused by a mutated or altered gene. Each type affects the individual from birth. All types tend to cause some degree of abnormal pigmentation‚ hearing loss‚ and facial abnormalities (see figure 1)‚ and a few types create more serious concerns involving anomalies in the hands and arms‚ and life-threatening issues of the bowel. We are still learning
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{draw:g} {draw:g} {draw:g} Tourette syndrome‚ (TS)‚ named after Gilles de la Tourette who discovered the condition‚ is a disorder that causes motor and vocal tics due to a chemical imbalance in the brain. Neurotransmitters constantly misfire in the brain of a TS sufferer releasing a chemical‚ known as dopamine‚ which transmits signals to many parts of the body causing these uncontrollable tics. Lange‚ Olivier and Meyer (2003) states‚ “This neuropsychiatric disorder is‚ in all likelihood
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Munchausen Syndrome by Proxy : Family Violence Research Paper Munchausen Syndrome by Proxy (MSBP) is referred to as several names‚ such as‚ fabrication illness and hospital addiction syndrome. The Maternal Child Nursing Care text book defines this syndrome as‚ “a rare but serious form of child abuse in which the caretaker deliberately exaggerates or fabricates histories and symptoms or induce symptoms. It is a form of child maltreatment that may include physical‚ emotional‚ and psychologic abuse
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