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