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Do not use examples from the book, or from my PowerPoint slides. • Discuss ONE example for each of the following alteration o
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Alteration of chromosomal structure Name of the condition Chromosome(s) involved Symptoms
CHROMOSOMAL DELETION Prader–Willi syndrome Deletion of paternal chromosome #15 (15q11-q13) hyperphagia, obesity, weak muscles, slow development
CHROMOSOMAL DUPLICATION Charcot–Marie–Tooth disease Duplication of a large region on the short arm of chromosome #17 foot drop, hammer toe, loss of sensation in the limbs, high or flat-arched feet
CHROMOSOMAL TRANSLOCATION Burkitt lymphoma Trenslocation between c-myc (8q24)and IGH@ [t(8;14)(q24;q32)] loss of appetite, weight loss, unexplained fever, night sweats, fatigue
CHROMOSOMAL INVERSION Walker-Warburg Syndrome Chromosome #9 inversion abnormal aldolase and creatine kinase levels, intellectual disability, specific learning disability, skeletal muscle atrophy
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