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