Chromosome 20 (Alagille syndrome)

· Genetic Disease Research Project, The genetics research paper must be written in the American Medical Association citation style and be at least 8 pages in lengthened not excluding the references. All references must be from journal articles. References from websites are not acceptable for this assignment.

· For this assignment your project must contain the following sections:

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1. Genetic Principles Underlining the disease and Mode of Inheritance. This section should define in detail the genetic principles and biological mechanisms related to how your disease is manifested and the mode of inheritance

2. Genotypic and Phenotypic features of your disease. Define the all clinically relevant major genotype that define your disease and describe the phenotypical characteristics that are typically associated with the disorder. Discuss the relationship of how the genotype is related to the phenotype. If there is correlation explain accordingly. Discuss the symptoms, if any, that related to your disease and when patients are typically diagnosed

3. Detection. Discuss the clinical test that are used to diagnosis your disease. Determine if it can be detected prenatally and if so how. Discuss if there are any means to determine if a patient is a carrier for the disease

4. Clinical description of the disorder. Discuss the clinical features of the disorder and how the disease affects the patient from a physiological perspective. What are the molecular mechanisms and the psychological ramifications associated with the disease? Define the demographics are commonly affected including age, gender, and ethnicity

5. Management and Treatment. Discuss what treatments, if any, are available and the effectiveness of each. Identify and discuss any new treatments recently subjected to a clinical trial. If no treatment is available discuss potential treatment you may consider to be possibly effective

6. Counseling and Inherent Risk. Define and discuss if the patient, if fertile, should have children and define all the risk factor that put the patient at risk

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