Marfan Syndrome is caused by a genetic mutation. Marfan can be passed on from parents or can occur spontaneously. The disorder happens in the gene that enables your body to produce a protein that helps give connective tissue its elasticity and strength. The mutation results in an increase in a protein called transforming growth factor beta‚ or TGF-B. The increase causes the problems in the connective tissues of the body. Marfan Syndrome is an autosomal recessive disorder. An autosomal recessive
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DiGeorge Syndrome: A Study in Chromosomal Errors DiGeorge syndrome is an anomaly that occurs when the 22q11.2 chromosome has been deleted‚ causing many different symptoms in various parts of the body. Those affected by DiGeorge syndrome often display signs of heart disease and defect at birth‚ presence of "cleft" palate (opening in the roof of the mouth)‚ learning disorders‚ autoimmune diseases (such as rheumatoid arthritis)‚ hypocalcaemia (low presence of calcium in blood)‚ speech disabilities
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Tourette Syndrome was first described by a French doctor named Georges Gilles de la Tourette. (Joseph‚ Kidshealth) The disease can be very hard to control depending on the severity. It can cause repetitive movements or sudden jerks such as excessive eyeblinking‚ or shrugging your shoulders and even head jerking. Tourette’s can also can cause you to say unwanted things such as offensive phrases/words or blurting out random words‚ which are typically called tics. (Tourette Syndrome‚ Mayoclinic) Tics
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Klinefelter’s Syndrome “Harry Fitch Klinefelter specialized in endocrinology and rheumatology (weak bones) and through his studies Klinefelter’s syndrome was described in 1942‚” (Encyclopedia Britannica). The diagnosis of the patient is usually done at a young age through a series of many tests‚ one in which the doctor finds if the patient has two X-Chromosomes and one Y-Chromosome. As a random genetic mishap during the formation of the fetus‚ Klinefelter’s has many symptoms. The treatment is not
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Turner syndrome is named after Henry Turner who‚ in 1938‚ was one of the first doctors to report on the disorder in medical literature. Turner syndrome is one of the most common chromosomal disorders and is one of the most common genetic disorders found in females‚ it is a rare chromosomal disorder that affects only females. This condition occurs in about 1 in 2‚500 female births worldwide‚ but is much more common among pregnancies that do not survive to term‚ like miscarriages and stillbirths.
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Edwards Syndrome‚ also known as Trisomy 18‚ is a genetic syndrome of severe to profound mental retardation. It is caused by the presence of an extra chromosome 18 in some or all of the cells in the body. Babies with this condition typically do not survive but for a few months after birth. About sixty percent of newborns with this condition die within the first week‚ and eighty percent do not survive through the first month
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Genetically transmitted disease Down syndrome Down syndrome is a genetically transmitted disease‚ the symptoms of this disease can vary depending on the person‚ but children with Down syndrome have unique physical characteristic traits for example: decrease in muscular tone‚ excess skin around the nape‚ widened nose‚ among others. Some mental characteristics are: impulsive behavior‚ short periods of attention and slow learning. Some of the disease’s effects are: pulmonary hypertension
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Asperger syndrome is a disability which is similar to autism‚ where people see the world in a different perspective and interact with others differently. You are born with the syndrome and have it for life as there are no cure or treatment to this disability‚ however are series of strategies and approaches to help the people. What are the main difficulties that people with Asperger syndrome encounter? People with Asperger syndrome‚ have resembling difficulties as people with Autism‚ such as having
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Graduate Research Report July 28‚ 2013 Asperger’s Syndrome: Shedding Light on the Madness Education of the Exceptional Child Graduate Research Report July 28‚ 2013 Asperger’s Syndrome: Shedding Light on the Madness In researching my topic of Asperger’s Syndrome‚ I was confused at first because of all of the information out there. Firstly‚ it is an ASD‚ otherwise known
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Patient C is a male with Patau’s syndrome. This syndrome is also referred to as trisomy 13. It is caused by a chromosomal abnormality‚ in which some or all the cells in the body contain extra genetic material from chromosome 13. The chromosomal condition is often associated with a severe intellectual disability and several physical abnormalities. Patau’s occurs in about 1 in 16‚000 infants. Women of all ages have a chance of giving birth to a child with this condition‚ but the risk increases as
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