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