Matching Pairs Patho: Genetic DiseaseOnline version Match the disease name with its description by Rebecca Edmiston 1 Marfan syndrome 2 Wilson's disease 3 G6PD deficiency 4 Cystic Fibrosis 5 Huntington's Disease 6 Tay Sachs disease 7 Familial adenomatous polyposis 8 Ehlers-Danlos syndrom 9 Angelman Syndrom 10 Neurofibromatosis Mutation of NF1 gene, decreased neurofibromin production, tumors, cafe-au-lait spots Disorder of copper metabolism Autosomal dominant, fibrillin-1 gene; tall, lanky structure, heart murmur Disruption of collagen gene, joint hypermobility, skin hyperelasticity APC gene disrupted, increased risk of colon cancer Loss of specific genes on chromosome 15, maternal chromosome most affected, developmental delays Mutation on chromosome 15, disruption of lysosomal enzyme, cognitive impairment, ganglioside accumulation Autosomal recessive disease affecting lungs and pancreas. Metabolic enzyme, disruption of gene results in RBC hemolysis Autosomal dominant, adult-onset, degeneration of neuron, movement disfunction
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