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