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