LEADER 05489nam 2200733 a 450 001 9910452185503321 005 20200520144314.0 010 $a1-118-68900-3 010 $a1-118-68902-X 035 $a(CKB)2550000001102592 035 $a(EBL)1315453 035 $a(OCoLC)853364587 035 $a(SSID)ssj0000918382 035 $a(PQKBManifestationID)12318712 035 $a(PQKBTitleCode)TC0000918382 035 $a(PQKBWorkID)10906628 035 $a(PQKB)10117430 035 $a(OCoLC)857080205 035 $a(MiAaPQ)EBC1315453 035 $a(JP-MeL)3000046272 035 $a(PPN)201702053 035 $a(Au-PeEL)EBL1315453 035 $a(CaPaEBR)ebr10734638 035 $a(CaONFJC)MIL505075 035 $a(EXLCZ)992550000001102592 100 $a20150303d2013 uy 0 101 0 $aeng 135 $aurcn||||||||| 181 $ctxt 182 $cc 183 $acr 200 10$aMedical genetics at a glance$b[electronic resource] /$fDorian J. Pritchard, Bruce R. Korf 205 $a3rd ed. 210 $aChichester, England $cWiley-Blackwell$dc2013 215 $a1 online resource (233 p.) 225 1 $aAt a Glance 300 $aIncludes index. 311 $a0-470-65654-9 311 $a1-299-73824-9 327 $aCover; 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 segregation 327 $aExample 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 risk 327 $aEstimation 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) 327 $aOtosclerosis 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) 327 $aSevere 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; Overview 327 $aRules of X-linked recessive inheritance 330 $aMedical Genetics at a Glance covers the core scientific principles necessary for an understanding of medical genetics and its clinical applications, while also considering the social implications of genetic disorders. This third edition has been fully updated to include the latest developments in the field, covering the most common genetic anomalies, their diagnosis and management, in clear, concise and revision-friendly sections to complement any health science course. Medical Genetics at a Glance now has a completely revised structure, to make its content even 410 0$aAt a Glance 606 $aGenetic disorders 606 $aChromosome abnormalities 606 $aMedical genetics 608 $aElectronic books. 615 0$aGenetic disorders. 615 0$aChromosome abnormalities. 615 0$aMedical genetics. 676 $a616/.042 700 $aPritchard$b D. J$g(Dorian J.)$0950553 701 $aKorf$b Bruce R$0747985 801 0$bMiAaPQ 801 1$bMiAaPQ 801 2$bMiAaPQ 906 $aBOOK 912 $a9910452185503321 996 $aMedical genetics at a glance$92149204 997 $aUNINA