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