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