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