Townes-Brocks syndrome is an autosomal dominant inheritance syndrome that is caused by mutations in SALL1‚ which is located on 16q12.1 and whose gene product is a zinc finger protein that acts as a transcription factor gene (Kohlhase 2016). This syndrome is often caused by a variety of mutations such as nonsense‚ frame-shift‚ deletions‚ duplications and insertions. More severe cases have been related to a dominant negative or positive effect of a truncated protein (Stevens and May 2016). The prevalence
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Asperger’s Syndrome “John Robison has longed to connect with other people‚ but by the time he was a teenager‚ his odd habits—an inclinations to blurt out non sequiturs‚ avoid eye contact‚ dismantle radios‚ and dig five-foot holes (and stick his younger brother in them)—had earned him the label “social deviant’”( Robison‚2007). John Robison was diagnosed as having an Asperger’s Syndrome. People living with Asperger’s Syndrome have varying complications from the syndrome. Some complications people
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My specific purpose is to inform my audience about the effects of alcohol on the fetus‚ the many effects and harms associated with Fetal Alcohol Syndrome‚ and treatment for fetal alcohol syndrome. Fetal Alcohol Syndrome l. how consuming alcohol affects a fetus A. Definition of Fetal Alcohol Syndrome 1. Use Medical encyclopedia example 2. When you drink‚ the baby drinks too‚ not well for developing organs and brain cells. B. There are no safe levels of alcohol consumption
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urinate a lot‚ always thirsty‚ and stress‚ oh no these signs and symptoms are Cushing syndrome and diabetes insipidus‚ which are Pituitary gland diseases. Then I start reading and found out that‚ Pituitary gland is a tiny organ the size of a pea found at the base of the brain behind your nose and between your ears. Pituitary gland produces a number of hormones or chemicals
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Robert’s Syndrome or Psuedo Thalidomide Syndrome is a gentic disorder with many growth delays before and after birth. This syndrome shows the malformation of legs and arms‚ abnormalalitles of the skull and facial regions. In most cases‚ it causes intelutcal disabitlly. In a case presneted‚ the parents of four children‚ the third conception had Robert’s Diesase. However the child was not diagnosed till the age of two. The only sign at birth was a cleft palate. At the age of two‚ the child was unable
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Tics and Tourette’s Syndrome Tics are sudden‚ uncontrollable movements or sounds that are repeated. Tourette’s is a distinct form of Tic‚ which involves repeated movements and sounds. Tourette’s Syndrome is a neurological disorder‚ affecting the Central Nervous System. Disorder is named for Dr. Georges de la Toilette‚ a French neurologist. In 1885‚ he first diagnosed an 85-year-old French noblewoman. Research suggests that Tourette’s syndrome is caused by unknown abnormalities in the cortex and
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Klinefelter syndrome‚ also known as the XXY condition‚ is a term used to describe males who have an extra X chromosome in most of their cells. Instead of having the usual XY chromosome pattern that most males have‚ these men have an XXY pattern. Klinefelter syndrome is named after Dr. Henry Klinefelter‚ who first described a group of symptoms found in some men with the extra X chromosome. Even though all men with Klinefelter syndrome have the extra X chromosome‚ not every XXY male has all of those
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Bloom syndrome is a rare genetic disorder. Usually due to this disease a skin rash may occur after exposure to the sun‚ and chance of cancer is largely increased. A New York dermatologist named David Bloom discovered the syndrome‚ hence the name‚ in 1954. Since the discovery‚ there have been more than 170 case reports for this disorder just in the United States. There are a variety of symptoms for this disorder. Usually the first physical symptom of bloom syndrome is growth delay. Over 50% of children
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chromosomes involved in certain disorders such as Down Syndrome‚ Turner Syndrome‚ and Klinefelter Syndrome. An individual with Down Syndrome has an extra copy of chromosome 21 (“Chromosomal Abnormalities‚” par. 1). Only women can have Turner Syndrome which occurs when a female has only one X chromosome. Females with this disorder may have an array of developmental and medical problems; they are also sterile (“Turner Syndrome‚” par. 1). Klinefelter Syndrome‚ which occurs when a male has an extra X chromosome
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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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