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