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les_1_24092009 - contact [email protected]

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contact: [email protected] http://medgen.ugent.be 09 332 55 34 (work)
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overview 24/9 & 01/10: the human genome: organization and function, genetic variation & mutations, mutation detection and disease gene identification 8, 15 & 22/10: Mendelian inheritance and monogenic diseases 29/10 & 5/11: multifactorial inheritance 12 & 19/11: cancer genetics 26/11 & 3/12: clinical cytogenetics 10/12: genetic counselling social, ethical and psychological implications of genetic testing
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working colleges 29/9: no working college: preparation case presentations 20/10: working college from 14:00 room 1.3.39 6 groups - 4 to 5 persons illustrative case on genetic diseases case presentation 20’ 10’ discussion
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Case 1 a 4-year-old girl is referred to the departement of pediatric hemato-oncology with the suspicion of leukemia. An acute lymphoblastic leukemia is diagnosed, the leukemic cells display a t(4;11)(q21;q23). what are the signs and symptoms of leukemia? how is leukemia diagnosed? what is the meaning/relevance of the t(4;11)(q21;q23) t(4;11)(q21;q23): diagnostic tools how should she be treated? what is her prognosis?
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Case 2 A 54-year-old male is diagnosed with a lymphoma. In the neoplastic cells a t(14;18)(q32;q21) is noted. what are the signs and symptoms of lymphoma? how is lymphoma diagnosed? what is the meaning of the t(14;18)(q32;q21)? t(14;18)(q32;q21): diagnostic tools how should he be treated? what is his prognosis?
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Case 3 A 24-year-old man carries a pathogenic mutation in the BRCA2 gene. He and his partner have an active child wish and want to consider the possibilities for not passing on the mutation to their offspring. what are the implications of carrying a BRCA2 mutation? how can transmission to offspring be prevented? how should they be advised? is carriership of a BRCA2 mutation an indication for prenatal diagnosis and termination of the pregancy? what if they chose for a natural pregnancy?
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Case 4 a 35-year- old women is predisposed for Huntington’s disease and is concerned about the risk for this disease in her 3-year- old daughter. Therefore, she would like to have her daughter tested for the mutation. what is Huntington’s disease? what about testing her daughter? how should she be advised?
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Case 5 A 4-year-old boy is diagnosed with mental retardation. His parents visit the clinic because they are concerned for future children. what are the most frequent causes of mental retardation in boys? what analyses are performed in the exploration of mental retardation in boys? what is the recurrence risk for boys or girls? how should the parents be advised? how about prenatal diagnosis?
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Case 6 A 35-year-old male is diagnosed with feochromocytoma. He wonders if he is at risk for other types of cancer and is concerned for the risk of cancer in his sibs and children.
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