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