GENETICS, DISORDER TYPES

Question 1

achondroplasia, hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome), hereditary spherocytosis, Huntington disease, Li-Fraumeni syndrome, Marfan syndrome, multiple endocrine neoplasias, myotonic muscular dystrophy, neurofibromatosis type I/2, von hippel Lindau disease

Answer 1

autosomal dominant disease

Question 2

cystic fibrosis, Friedrich ataxia, glycogen storage diseases, hemochromatosis, kartegener syndrome, mucopolysaccharidoses, phenylketonuria, sickle cell anemia, thalassemias, Wilson disease

Answer 2

autosomal recessive diseases

Question 3

ornithine transcarbamylase deficiency, fabry disease, wiskott Aldrich syndrome, ocular alibinism, G6PD deficiency, Hunter syndrome, Bruton agammaglobinemia, hemophilia A/B, Lesch Nyhan syndrome, Duchenne and Becker muscular dystrophy

(OFWOGHBHXD, oblivious female will often give her boys her x-linked disorders)

Answer 3

x-linked