05489nam 2200733 a 450 991045218550332120200520144314.01-118-68900-31-118-68902-X(CKB)2550000001102592(EBL)1315453(OCoLC)853364587(SSID)ssj0000918382(PQKBManifestationID)12318712(PQKBTitleCode)TC0000918382(PQKBWorkID)10906628(PQKB)10117430(OCoLC)857080205(MiAaPQ)EBC1315453(JP-MeL)3000046272(PPN)201702053(Au-PeEL)EBL1315453(CaPaEBR)ebr10734638(CaONFJC)MIL505075(EXLCZ)99255000000110259220150303d2013 uy 0engurcn|||||||||txtccrMedical genetics at a glance[electronic resource] /Dorian J. Pritchard, Bruce R. Korf3rd ed.Chichester, England Wiley-Blackwellc20131 online resource (233 p.)At a GlanceIncludes index.0-470-65654-9 1-299-73824-9 Cover; Title page; Copyright page; Contents; Preface to the first edition; Preface to the third edition; Acknowledgements; List of abbreviations; Part 1 : Overview; 1: The place of genetics in medicine; The case for genetics; Genes in development; Genotype and phenotype; Genetics in medicine; The application of genetics; Part 2 : The Mendelian approach; 2: Pedigree drawing; Overview; The medical history; Rules for pedigree diagrams; The practical approach; Use of pedigrees; 3: Mendel's laws; Overview; The principle of unit inheritance; The principle of dominance; The principle of segregationExample The principle of independent assortment; Example; The test-mating; Matings between double heterozygotes; Biological support for Mendel's laws; Exceptions to Mendel's laws; 1. Sex-related effects; 2. Mitochondrial inheritance; 3. Genetic linkage; 4. Polygenic conditions; 5. Overdominance, codominance, variable expressivity and incomplete penetrance; 6. Genomic imprinting; 7. Dynamic mutation; 8. Meiotic drive; Conclusion; 4: Principles of autosomal dominant inheritance and pharmacogenetics; Overview; Rules for autosomal dominant inheritance; Example; Estimation of riskEstimation of mutation rate Pharmacogenetics; Debrisoquine hydroxylase deficiency (AR); Porphyria variegata (AD); G6PD deficiency (X-linked R) (see Chapter 11); N-acetyl transferase deficiency (AR); Pseudocholinesterase deficiency (AR); Halothane sensitivity, malignant hyperthermia (genetically heterogeneous); Thiopurine methyltransferase deficiency (ACo-D); 5: Autosomal dominant inheritance, clinical examples; Overview; Disorders of the fibroblast growth factor receptors; Achondroplasia; Marfan syndrome (MFS); Familial hypercholesterolaemia (FH); Dentinogenesis imperfecta 1 (DGI)Otosclerosis 1 (OTSC1)Adult polycystic kidney disease (APKD, PKD); Multiple hereditary exostoses (EXT); 6: Autosomal recessive inheritance, principles; Overview; Rules for autosomal recessive inheritance; Example: albinism; Estimation of risk; Example: congenital deafness; 7: Consanguinity and major disabling autosomal recessive conditions; Overview; Management issues; Consanguineous matings; Incestuous matings; Brother-sister matings; Parent-child matings; Risk for offspring; First cousin marriages; Mental handicap; Oculocutaneous albinism; Recessive blindness; Retinitis pigmentosa (RP)Severe congenital deafness Connexin 26 defects (CX26); Pendred syndrome (PDS); 8: Autosomal recessive inheritance, life-threatening conditions; Overview; Cystic fibrosis (CF); Tay-Sachs disease, GM2 gangliosidosis; Phenylketonuria (PKU); Spinal muscular atrophy (SMA); 9: Aspects of dominance; Overview; Codominance (Co-D), the ABO blood groups; Incomplete dominance, overdominance and heterosis; Incomplete penetrance; Delayed onset; Variable expressivity; Neurofibromatosis type 1 (NF1), Von Recklinghausen disease; 10: X-linked and Y-linked inheritance; OverviewRules of X-linked recessive inheritanceMedical Genetics at a Glance covers the core scientific principles necessary for an understanding of medical genetics and its clinical applications, while also considering the social implications of genetic disorders. This third edition has been fully updated to include the latest developments in the field, covering the most common genetic anomalies, their diagnosis and management, in clear, concise and revision-friendly sections to complement any health science course. Medical Genetics at a Glance now has a completely revised structure, to make its content evenAt a GlanceGenetic disordersChromosome abnormalitiesMedical geneticsElectronic books.Genetic disorders.Chromosome abnormalities.Medical genetics.616/.042Pritchard D. J(Dorian J.)950553Korf Bruce R747985MiAaPQMiAaPQMiAaPQBOOK9910452185503321Medical genetics at a glance2149204UNINA