Ebook Toronto notes 2018 (34/E): Part 2

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Ebook Toronto notes 2018 (34/E): Part 2

MGMedical GeneticsSpencer van Mil, chapter editorSheliza Halani and Taraneh Totighi, associate editorsArnav Agarwal and Sukhrnani Sodhi, EBM editorsDr

Ebook Toronto notes 2018 (34/E): Part 2r. Hanna Faghfoury and Dr. Joyce So, start'editorsAcronyms2Introduction to Genetics...................2BackgroundPedigreesGenetic Testing and Counsell

ingDysmorphisms...............................4Congenital AnomaliesApproach to the Dysmorphic ChildSyndromes and Diseases.....................5Large G Ebook Toronto notes 2018 (34/E): Part 2

enomic Changes Single Gene Disorders Metabolic DiseasesReferences..................................9Medical Genetics MG1Toronto Notes 2018Toronto Note

Ebook Toronto notes 2018 (34/E): Part 2

s 2018MG2 Medical GeneticsAcronymsAcronymsCFcystic fibrosisONTOopen neural tube defectCNVcopy number variationPKUphenyketorunaFISHfluorescence in s«u

MGMedical GeneticsSpencer van Mil, chapter editorSheliza Halani and Taraneh Totighi, associate editorsArnav Agarwal and Sukhrnani Sodhi, EBM editorsDr

Ebook Toronto notes 2018 (34/E): Part 2undTerms•Penetrance: extent that a gene is observably expressed in an individual that carries it•Expressivity: extent of gene expression•Genetic heter

ogeneity: genetic disorder can arise from ditferent allcle/locus mutations•Phenotypic heterogeneity: mutations in the same gene resulting in multiple Ebook Toronto notes 2018 (34/E): Part 2

diverse clinical manifestations and degree of severity•Imprinting: epigenetic process that involves methylation or acetylation of DNA, affecting gene

Ebook Toronto notes 2018 (34/E): Part 2

expression

MGMedical GeneticsSpencer van Mil, chapter editorSheliza Halani and Taraneh Totighi, associate editorsArnav Agarwal and Sukhrnani Sodhi, EBM editorsDr