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