Genetic Disorders: Schizophrenia April 18‚2011 Background Genetic Disorders occur when there is a change or mutation in the information contained in the genes. When cells get older or they have been exposed to something harmful disorders can occur. Genetic disorders can be caused by a mutation in one gene called monogenic disorder‚ by mutations in multiple genes called multifactorial inheritance disorder‚ by a combination of gene mutations and environmental factors‚ or by damage to chromosomes
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Cindy is an expectant mother who is eight weeks pregnant with her first child. She is having a genetic test because there is a history of learning disabilities and mental impairment in her family. Based on her family history‚ there is a possibility that she is a carrier for Fragile X‚ a genetic disorder that occurs when a person’s X chromosome(s) contains greater than 200 repeats of the CGG base pair sequence. Symptoms in infants include a delay in crawling‚ walking‚ or twisting‚ frequent hand clapping
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used for this syndrome (Cardiac Abnormality/abnormal facies‚ T cell deficit due to thymic hypoplasia‚ Cleft palate‚ Hypocalcemia ) (2) a variation in the phenotype and deletion can be in both maternal or paternal origin (1) Figure 1: shows the genetic map of chromosomal region 22q11.2‚ 85% individuals have a large 3-Mb deletion (40 genes) (3). Clinical features (1) Cardiac malformations (aortic arch anomalies) Dysmorphic facial features (low set ears ‚ upward and downward slanting eyes
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Genetic disorders are one or more abnormalities in genomes‚ a genetic disorder is usually apparent at birth. Genetic disorders are usually rare and impact one in several thousands‚ if not millions. Prader-Willi Syndrome is a genetic disorder that causes obesity‚ intellectual disability‚ and shortness in height. PWS was first described by Swiss doctors Andrea Prader‚ Alexis Labhart‚ and Heinrich Willi in 1956 based on the clinical characteristics of nine children they examined. PWS is recognized as
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Genetics and Disorders Candace Artis PSY 104 Child and Adolescent Instructor: Dominique Jeffery March 13th‚ 2013 In this paper I will be addressing the following questions: What are genes? How do genes of the two parents influence the traits of an offspring? What is Sickle Cell and who is at risk? How abnormalities can contribute to genetic and/or chromosomal disorders such as‚ sickle cell? Before I discuss genes‚ I have to tell what genes are. Genes are working subunits of DNA.
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Tay-Sachs is a rare genetic disorder that slowly destroys nerve cells in the brain and spinal cord and this disease effects millions of people (Tay-Sachs GHR). Tay-Sachs can’t be spread as it’s a genetic disorder. It is caused by a genetic mutation in the HEXA genes (Tay-Sachs GHR). People who have Tay-Sachs have problems with the enzyme called beta hexosamidase A and this enzyme is supposed to clean up the buildup of the molecule called GM2 ganglioside within cells but if it doesn’t it leads to
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Biology Research Tay-Sachs disease is a rare inherited disorder that destroys nerve cells in the brain and in the spinal chord. The most common form of this disease actually becomes apparent in infancy. Affected infants lose motor skills such as crawling and sitting. Sadly‚ children with this severe form of Tay-Sachs usually live only into early childhood. Tay-Sachs disease is very rare in the general population. The genetic mutations that cause this disease are more common to the people
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diseases that were once an imminent death sentence have made outstanding medical advances. Cystic fibrosis (CF) is a genetic disorder that decreases the effectiveness of the lungs due to a mucous buildup. In the late twentieth century patients with CF could only to expect to live a few years but since 2006‚ life expectancy has risen to 36 years of age.1‚2 Cystic fibrosis is a genetic disorder that causes a mutation of the cystic fibrosis transmembrane conductance regulator (CFTR). The most common mutation
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Biology March 15‚ 2013 Genetic Disorder Assignment (Colon Cancer) Cancer is when cells divide only when they are needed to keep our bodies functioning properly; the mechanisms that regulate cell growth stop working and cells divide out of control to form tumors. When cancer develops in the cells lining the colon in the first part of the large intestine‚ it’s called Colon cancer. FAP (familial adenomatous polyposis) and HNPCC (hereditary non-polyposis colon cancer) are inherited in autosomal
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Much research has been done in recent history involving the genetics of asthma and what produces it. Many researchers claim that asthma the gene that is connected to asthma has been “proven to be difficult” to find. However‚ plenty of work has been done in labs and experiments providing evidence of chromosomes‚ diseases‚ and of the environment that shows asthma is genetic (Koppelman et al). In this paper‚ I hope to provide the average person with the same knowledge that I have attained by reading
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