Answers
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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