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Basic Biochemistry

HY - Bill's Genetics - One-Liners

QuestionAnswer
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
Created by: HY90X