Basic Biochemistry Word Scramble
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Question | Answer |
What genetics disease follow autosomal dominant transmission? | Achondroplasia, ADPKD, Familial adenomatous polyposis, Hypercholesterolemia, Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu), Hereditary Spherocytosis, Huntington's, Marfan's, MEN, NF types 1/2, Tuberous Sclerosis, and von Hippel-Lindau Disease |
What genetic diseases follow X-linked transmission? | Bruton's agammaglobinemia, Wiskott-Aldrich syndrome, Fabry's disease, G6PD deficiency, Ocular Albinism, Lesch-Nyhan Syndrome, Duchenne's and Becker's MD, Hunter's Syndrome, Hemophilia A and B, and Fragile X syndrome. |
Which diseases are caused by trinucleotide repeats? | Huntington's, myotonic dystophy, Fragile X, and Friedreich's ataxia |
Which trisomy has mental retardation, flat face, epicanthal folds, a simian crease, doudenal atresia, and and ASD? | Down's Syndrome (21) |
Which trisomy has rocker-bottom feet, micrognathia, low set ears, clenched hands, and congenital heart disease? | Edward's Syndrome (18) |
Which trisomy has rocker-bottom feet, microphthalmia, microcephaly, cleft lip/palate, holoprosencephaly, and polydactyly? | Patau Syndrome (13) |
Which disorder is characterized by elfin faces, mental retardation, hypercalcemia, extreme friendliness to strangers? | William's Syndrome (think of Will ferrel in ELF) |
Cri-du-chat is caused by microdeletion of what chromosome? | Chromosome 5p |
What is the cause of DiGeorge Syndrome (Velocardiofacial syndrome)? | 22q11 deletion |
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