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