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

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Part 2 book “Toronto notes 2018” has contents: Medical genetics, medical imaging, population health and epidemiology, plastic surgery, vascular surgery, rheumatology, respirology, psychiatry, otolaryngology, orthopedics, ophthalmology, neurosurgery, neurology, and other contents. | Medical Genetics .c MG bo ok Spencer van Mil, chapter editor Sheliza Halani and Taraneh Tofighi, associate editors Arnav Agarwal and Sukhmani Sodhi, EBM editors Dr. Hanna Faghfoury and Dr. Joyce So, staff editors Acronyms. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2 co m Introduction to Genetics. . . . . . . . . . . . . . . . . . . . . 2 Background Pedigrees Genetic Testing and Counselling ee Dysmorphisms. . . . . . . . . . . . . . . . . . . . . . . Congenital Anomalies Approach to the Dysmorphic Child . . . . 4 Syndromes and Diseases . . . . . . . . . . . . . . . . . . . . 5 Large Genomic Changes Single Gene Disorders Metabolic Diseases References . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 Medical Genetics MG1 Toronto Notes 2018 MG2 Medical Genetics Toronto Notes 2018 c Acronyms fr Acronyms ONTD open neural tube defect PKU phenylketonuria SCID severe combined immunodeficiency US ultrasound ok k cystic fibrosis copy number variation fluorescence in situ hybridization first trimester screening integrated prenatal screening b CF CNV FISH FTS IPS Introduction to Genetics o Background eb eb bo oo sf re ok sf re e e Terms • Penetrance: extent that a gene is observably expressed in an individual that carries it • Expressivity: extent of gene expression • Genetic heterogeneity: genetic disorder can arise from different allele/locus mutations • Phenotypic heterogeneity: mutations in the same gene resulting in multiple diverse clinical manifestations and degree of severity • Imprinting: epigenetic process that involves methylation or acetylation of DNA, affecting gene expression • Uniparental disomy: two full or partial copies of a chromosome from one parent and no chromosome from the other parent m m Mendelian Inheritance • disorders caused by mutation of one or both copies (alleles) of a gene, inherited in one of two patterns ■■ autosomal: when disorder is caused by .