Andres Schmidt Biology Period- I 05/21/13 Coffin-Lowry Syndrome (CLS) Coffin-Lowy Syndrome Definition: Coffin–Lowry syndrome is a genetic disorder that is X-linked dominant and which causes severe mental problems sometimes associated with abnormalities of growth‚ cardiac abnormalities‚ kyphoscoliosis‚ as well as auditory and visual abnormalities. Grange S. Coffin in 1966 discovered this syndrome‚ in the University of Columbia New York United States of America. Grange S. Coffin Grange
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CRI DU CHAT SYNDROME WHO DISCOVERED CRI DU CHAT SYNDROME? In 1963‚ JEROME LEJEUNE described a syndrome consisting of multiple congenital anomalies‚ mental retardation‚ microcephaly‚ abnormal face‚ and a mewing cry in infants with a deletion of a B group chromosome (Bp-)‚ later identified as 5p- WHAT IS CRI DU CHAT SYNDROME? Cri-du-chat syndrome is an autosomal deletion syndrome caused by a partial deletion of chromosome 5p and is characterized by a distinctive‚ high-pitched‚ catlike cry in infancy
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Zellweger syndrome is one of a group of four related diseases called peroxisome biogenesis disorders‚ a group of deadly genetic diseases that claim the lives of children usually before they reach their first birthday. This syndrome is the most common type of peroxisome biogenesis disorder. The disease is caused by defects in any one of 13 genes‚ called PEX genes‚ required for the normal formation and function of peroxisomes. Peroxisomes are cell structures that break down toxic substances and synthesize
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Angelman syndrome (AS) is an infrequent genetic condition that has a considerable impact on a person’s nervous system which causes them to have severe physical and intellectual disabilities; I will briefly define these in the commentary (Genetic Disorders‚ 2015). Harry Angelman identified the condition in three children in 1965 however in today’s research it is found in one in sixteen million people.(Angelmanuk.2015).Therefore the reason the research has been so motivational is due to it being very
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Brooks Quartararo Mrs. Ruble Period 3 23 February 2012 Tourette’s Syndrome Tourette’s Syndrome is a neurological disorder caused by repetitive‚ involuntary movements called tics. The disorder is named after Dr. Georges Gilles de la Tourette‚ a French neurologist who first discovered the disease in 1885. Tourette’s is an inherited disorder‚ and it’s believed that it is closely linked to damage of the basal ganglia or the brain. The tics are classified as simple or complex. Simple tics are sudden
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Aspergers Syndrome is a lifelong neurobiological disorder of social interaction and behavior (Frith 2004; Wing 1981; Gillberg and Gillberg 1989; Klin et al. 2000). The purpose of this study was to study the language performance in school-aged children with Aspergers Syndrome along with their age‚ sex‚ and IQ matched controls. Prior to the study‚ they expected children with Aspergers Syndrome to perform below average in the selected measures of language due to their difficulties in language development
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Down Syndrome Although many theories have been developed‚ it is not known what actually causes Down syndrome. Some professionals believe that hormonal abnormalities‚ X-rays‚ viral infections‚ immunologic problems‚ or genetic predisposition may be the cause of the improper cell division resulting in Down syndrome. It has been known for some time that the risk of having a child with Down syndrome increases with advancing age of the mother; i.e.‚ the older the mother‚ the greater the possibility
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KLINEFELTER SYNDROME RESEARCH 1 Klinefelter Syndrome Research Duyen Le Ap Biology KLINEFELTER SYNDROME RESEARCH 2 Abstract Klinefelter syndrome is the most common genetic disorder that affects males. The affected male has an extra copy of X chromosome‚ which means he has 47 chromosomes (XXY). The effects of Klinefelter syndrome vary by age; the patients with Klinefelter syndrome usually have weak muscles‚ slow
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What a Diagnosis of Down Syndrome Means Today Down syndrome is a condition affecting many Americans and individuals across the world. It presents challenges socially‚ academically‚ and behaviorally. However‚ a diagnosis today is not nearly as detrimental to the person’s quality of life as it was decades ago. Strides have been made in Down syndrome awareness‚ education and overall acceptance. Screening is now available so that parents know in advance if they are going to have a child born with
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Down Syndrome Down Syndrome is a chromosomal disorder. It occurs in about 1 of every 800 births. People with Down syndrome may have mild to severe learning disabilities. Physical symptoms include a small skull‚ extra folds of skin under the eyes‚ and a protruding tongue. People with Down syndrome are subject to a variety of medical problems including heart abnormalities and thyroid gland dysfunction. Survival rates have been increased dramatically in recent years as problems specific to Down syndrome
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