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