Down Syndrome Report by: SCHOOL SUX The chromosomal abnormality involved in most cases of Down syndrome is trisomy-21‚ or the presence of three copies of the 21st chromosome. As a result‚ the affected person has 47 chromosomes in all body cells instead of the normal 46‚ although how this causes the condition’s symptoms is not yet known. Scientists assume that the reason for the abnormal chromosomal assortment is the fertilization of an ovum having 24 chromosomes by a sperm with a normal assortment
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How Genetics Influence Down Syndrome Julia Henry PSY 104 Professor Vincent July 7‚ 2013 How Genetics Influence Down Syndrome Genetics play such an vital role in our development. Every individual carries genes from their mother and their father. Characteristics such as height‚ eye color‚ if we have curly or straight hair are all determined through the our genes and specifically our chromosomes. Many times‚ parents inadvertently pass genes on to their children through their DNA that may contribute
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either individuals with Autism were not interested in social activities or that individuals want to interact socially but lack the skills necessary for this. The term autism was originally introduced by the psychiatrist Kanner (1943) to explain a syndrome he observed in some of his child patients. Kanner identified the key features of autism‚ which include “impairments in social interaction and communication skills‚ coupled with unusual interest patterns and stereotyped behaviours.” (Schopler‚ E‚
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Turner’s Syndrome Turner’s syndrome is a genetic condition in which a female does not have the usual pair of two X chromosomes. This medical disorder affects about 1 in every 2‚500 girls. I do not know exactly what causes Turner syndrome‚ but researchers know that it is the result of a problem with a girl ’s chromosomes either not being there at all or only part of it is still there. I think the most known effects of the condition vary widely with girls with Turner syndrome. It all depends
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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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are many causes of intellectual disability‚ and there are only a few cases where doctors can actually identify the specific reason. The causes can include infections that are present at or occur after birth‚ chromosomal abnormalities such as Down syndrome‚ environmental factors‚ nutritional factors‚ toxic factors such as drugs or alcohol‚ or it is simply unknown. The symptoms of the disorder are lack of slow development of motor‚ language‚ and self help skills compare to peers‚ they failed to properly
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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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There are a variety of physical characteristics that are associated with children that are diagnosed with Autism. One characteristic that is noticeable is an abnormal face structure. Brachycephalic also known as flat head syndrome is a type of cephalic (Brain) disorder that is common with autistic children. This occurs when the carnal structure fuses prematurely‚ causing a shortened front- to –back diameter of the skull. Another common characteristic in Autistic children is Eye Asymmetry this
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