ژنتیک پزشکی ضروری امری و ریموین

For decades, Emery and Rimoin’s Principles and Practice of Medical Genetics has provided the ultimate source for practicing clinicians to learn how the study of genetics can be integrated into practice. Developed in parallel to the sixth edition, and featuring 174 original contributions from the many authors of the full set, this one volume work expertly condenses and synthesizes the most clinically relevant content, for convenient desk reference. Helping to bridge the gap between high-level molecular genetics and individual application, it follows the multi-volume set in encompassing scientific fundamentals, full spectrum discussion of major inherited disorders, and actionable therapies. Clinically oriented information is supported by concise descriptions of the principles of genetics, research approaches, and analytics to embrace the evolving population of students, researchers, and practitioners who are integrating their work to provide advanced diagnosis, prevention and treatment of human disease. This print volume is complemented and enhanced with online access to the complete text, online-only references, and high quality illustrations on www.expertconsult.com. Key Features Features 174 summarized contributions concisely discussing advances in cancer genetics, genomic technologies, and molecular genetics Contains hundreds of full colour illustrations supporting users with identification, concept illustration, and method processing Enhanced with full text online access, high quality illustrations, and online-only references at www.expertconsult.com Readership Intended for direct purchase by medical genetics practitioners and researchers in related areas. Front Cover......Page 1 Emery and Rimoin’s Essential Medical Genetics......Page 4 Copyright......Page 5 Contents......Page 6 Preface......Page 17 Forword......Page 19 Personal Memories of David Rimoin......Page 21 Basic Principles......Page 23 1.1 A TIMELINE FOR MEDICAL GENETICS (PSH)......Page 25 FURTHER READING......Page 29 Chapter 2 - Medicine in a Genetic Context1......Page 31 FURTHER READING......Page 32 3.2 SINGLE-GENE DISORDERS......Page 34 3.4 SOMATIC CELL GENETIC DISORDERS......Page 35 REFERENCES......Page 36 Chapter 4 - Genomics and Proteomics......Page 37 Chapter 5 - Genome and Gene Structure......Page 38 Chapter 6 - Epigenetics......Page 39 FURTHER READING......Page 43 Chapter 7 - Human Gene Mutation in Inherited Disease: Molecular Mechanisms and Clinical Consequences......Page 44 8.3 AUTOSOMAL RECESSIVE INHERITANCE......Page 47 8.7 Y-LINKED (HOLANDRIC) INHERITANCE......Page 48 FURTHER READING......Page 50 Chapter 10 - Chromosomal Basis of Inheritance......Page 52 Chapter 11 - Mitochondrial Medicine: The Mitochondrial Biology and Genetics of Metabolic and Degenerative Diseases, Cancer, and Aging......Page 57 Chapter 12 - Multifactorial Inheritance and Complex Diseases......Page 60 REFERENCES......Page 61 Chapter 13 - Population Genetics......Page 63 FURTHER READING......Page 64 14.1 INTRODUCTION......Page 65 14.2 PATHOGENETICS OF MENDELIAN DISORDERS......Page 66 14.4 CONCLUSIONS......Page 67 FURTHER READING......Page 68 15.2 THE CONCEPT OF DEVELOPMENTAL FIELDS AND FIELD DEFECTS......Page 69 15.4 REGULATION OF GENE EXPRESSION IN DEVELOPMENT......Page 70 15.6 CONCLUSION......Page 71 GENERAL REFERENCES......Page 74 Chapter 16 - Twins and Twinning......Page 75 REFERENCES......Page 79 Chapter 17 - The Molecular Biology of Cancer......Page 80 18.3 HOW DO WE AGE?......Page 82 18.5 HUMAN ALLELIC VARIANTS HOMOLOGOUS TO PRO-LONGEVITY GENES IN MODEL ORGANISMS......Page 83 FURTHER READING......Page 84 Chapter 19 - Pharmacogenetics and Pharmacogenomics......Page 85 FURTHER READING......Page 88 General Principles......Page 89 Chapter 20 - Genetic Evaluation for Common Diseases of Adulthood......Page 91 REFERENCES......Page 94 Chapter 21 - Genetic Counseling and Clinical Risk Assessment......Page 96 FURTHER READING......Page 97 Chapter 22 - Cytogenetic Analysis......Page 98 Chapter 23 - Diagnostic Molecular Genetics......Page 100 FURTHER READING......Page 101 Chapter 24 - Heterozygote Testing and Carrier Screening......Page 102 HELPFUL WEBSITES......Page 103 25.1 SCREENING FOR AND DIAGNOSIS OF NEURAL TUBE DEFECTS......Page 104 25.4 ULTRASOUND SCREENING FOR ANEUPLOIDY......Page 105 FURTHER READING......Page 106 26.3 CHORIONIC VILLUS SAMPLING......Page 107 26.6 SUMMARY......Page 108 FURTHER READING......Page 110 Chapter 27 - Neonatal Screening......Page 111 Chapter 28 - Enzyme Replacement and Pharmacologic Chaperone Therapies for Lysomal Storage Disease......Page 113 Chapter 29 - Gene Therapy: From Theoretical Potential to Clinical Implementation......Page 115 30.2 DIAGNOSTIC GENETIC TESTS......Page 117 30.6 ANTENATAL SCREENING......Page 118 30.9 CROSS-CULTURAL GENETIC COUNSELING......Page 119 30.13 RESEARCH......Page 120 FURTHER READING......Page 121 Chapter 31 - Legal Issues in Genetic Medicine......Page 122 FURTHER READING......Page 123 Applications to Clinical Problems......Page 125 32.2 HYPERGONADOTROPIC HYPOGONADISM......Page 127 32.4 CONCLUSION......Page 128 FURTHER READING......Page 129 33.2 GENE DEFECTS INVOLVED IN ENDOCRINE FORMS OF INFERTILITY......Page 130 33.5 CONCLUSION......Page 131 FURTHER READING......Page 134 Chapter 34 - Fetal Loss......Page 135 FURTHER READING......Page 138 Chapter 35 - A Clinical Approach to the Dysmorphic Child......Page 139 FURTHER READING......Page 141 Chapter 36 - Clinical Teratology......Page 142 FURTHER READING......Page 145 Chapter 37 - Neurodevelopmental Disabilities: Global Developmental Delay, Intellectual Disability, and Autism......Page 146 Further Reading......Page 152 Chapter 38 - Abnormal Body Size and Proportion......Page 153 SUMMARY REFERENCES......Page 159 Chapter 39 - Susceptibility and Response to Infection......Page 160 FURTHER READING......Page 162 Chapter 40 - Transplantation Genetics......Page 163 REFERENCES......Page 165 41.4 INTRAVENTRICULAR HEMORRHAGE......Page 166 REFERENCES......Page 167 42.2 DISORDERS OF BASE EXCISION REPAIR: MUTYH AND COLON CANCER RISK......Page 168 42.4 DISORDERS ASSOCIATED WITH DOUBLE STRAND BREAK RECOGNITION AND REPAIR: ATAXIA TELANGIECTASIA AND RELATED CONDITIONS......Page 169 42.6 DISORDERS ASSOCIATED WITH RECQ HELICASE DEFICIENCY: BLOOM, WERNER AND ROTHMUND–THOMSON SYNDROMES......Page 170 REFERENCES......Page 171 Applications to Specific Disorders......Page 173 Chromosomal Disorders......Page 175 Chapter 43 - Autosomal Trisomies......Page 177 Chapter 44 - Sex Chromosome Abnormalities......Page 179 FURTHER READING......Page 182 Chapter 45 - Deletions and Other Structural Abnormalities of the Autosomes......Page 183 FURTHER READING......Page 187 Cardiovascular Disorders......Page 189 Chapter 46 - Congenital Heart Defects......Page 191 References......Page 196 47.2 DILATED CARDIOMYOPATHY......Page 197 47.5 CONCLUSION......Page 198 REFERENCES......Page 202 Chapter 48 - Heritable and Idiopathic Forms of Pulmonary Arterial Hypertension......Page 203 FURTHER READING......Page 205 49.3 PHENOTYPE AND NATURAL HISTORY......Page 206 49.6 DIAGNOSIS......Page 207 49.7 MANAGEMENT......Page 208 ACKNOWLEDGMENTS......Page 209 FURTHER READING......Page 213 50.2 DISORDERS OF THE LYMPHATIC SYSTEM......Page 214 50.4 VARICOSE VEINS......Page 215 50.5 GENETIC COUNSELING......Page 216 FURTHER READING......Page 217 Chapter 51 - The Genetics of Cardiac Electrophysiology in Humans......Page 218 51.3 PERSONALIZED MANAGEMENT OF DISORDERS OF CARDIAC ELECTROPHYSIOLOGY......Page 219 51.4 CONCLUSIONS......Page 220 FURTHER READING......Page 222 52.2 MENDELIAN AND OTHER FORMS OF HYPERTENSION......Page 223 52.6 CONCLUSIONS......Page 224 FURTHER READING......Page 227 Chapter 53 - Preeclampsia......Page 228 FURTHER READING......Page 230 54.1 THE COAGULATION CASCADE......Page 231 54.6 CONCLUSIONS......Page 232 FURTHER READING......Page 234 Chapter 55 - Genetics of Atherosclerotic Cardiovascular Disease......Page 235 FURTHER READING......Page 236 56.2 GLOMUVENOUS MALFORMATION......Page 237 56.5 HYPERKERATOTIC CUTANEOUS CAPILLAROVENOUS MALFORMATION......Page 238 ACKNOWLEDGMENTS......Page 239 FURTHER READING......Page 240 57.2 CAPILLARY MALFORMATION—ARTERIOVENOUS MALFORMATION......Page 241 ACKNOWLEDGMENTS......Page 243 FURTHER READING......Page 244 Respiratory Disorders......Page 245 Chapter 58 - Cystic Fibrosis......Page 247 FURTHER READING......Page 250 Chapter 59 - Genetic Underpinnings of Asthma and Related Traits......Page 251 FURTHER READING......Page 255 Chapter 60 - Hereditary Pulmonary Emphysema......Page 256 REFERENCES......Page 258 Chapter 61 - Interstitial and Restrictive Pulmonary Disorders......Page 259 FURTHER READING......Page 260 Renal Disorders......Page 261 62.1 ERRORS OF ORGANOGENESIS......Page 263 62.3 ERRORS RESULTING IN OBSTRUCTION......Page 264 REFERENCES......Page 273 Chapter 63 - Cystic Diseases of the Kidney......Page 274 FURTHER READING......Page 275 64.1 NS IN NEWBORNS AND CHILDREN......Page 277 64.3 NS DIAGNOSTICS AND MANAGEMENT......Page 278 65.1 GENERALIZED DISORDERS OF TUBULAR FUNCTION (FANCONI SYNDROME)......Page 279 FURTHER READING......Page 280 66.1 TUMORS OF THE KIDNEY......Page 281 66.3 CARCINOMA OF THE PROSTATE......Page 283 REFERENCES......Page 284 Gastrointestinal Disorders......Page 287 Chapter 67 - Gastrointestinal Tract and Hepatobiliary Duct System......Page 289 FURTHER READING......Page 291 Chapter 68 - Bile Pigment Metabolism and Its Disorders......Page 292 REFERENCES......Page 293 69.1 FAMILIAL GASTROINTESTINAL CANCER SYNDROMES......Page 294 Further Reading......Page 300 Hematologic Disorders......Page 303 Chapter 70 - Hemoglobinopathies and Thalassemias......Page 305 Further Reading......Page 310 RELEVANT WEB PAGES......Page 311 71.3 CONGENITAL BONE MARROW FAILURE SYNDROMES......Page 312 REFERENCES......Page 313 72.3 VON WILLEBRAND DISEASE......Page 314 72.7 INHERITED DISORDERS PREDISPOSING TO THROMBOSIS......Page 315 FURTHER READING......Page 319 73.5 PRENATAL RH GENOTYPING......Page 320 FURTHER READING......Page 321 Chapter 74 - Leukemias, Lymphomas, and Other Related Disorders......Page 322 FURTHER READING......Page 323 Autoimmunity: Genetics and Immunologic Mechanisms......Page 324 FURTHER READING......Page 326 Chapter 77 - Rheumatoid Disease and Other Inflammatory Arthropathies......Page 328 REFERENCES......Page 329 Chapter 78 - Amyloidosis and Other Protein Deposition Diseases......Page 331 78.2 TREATMENT OF HEREDITARY AMYLOIDOSIS......Page 332 REFERENCES......Page 333 Chapter 79 - Immunodeficiency Disorders......Page 334 FURTHER READING......Page 335 80.2 GENETICS......Page 337 80.3 DIAGNOSIS......Page 338 FURTHER READING......Page 339 Endocrinologic Disorders......Page 341 81.1 NEUTROPHIL NUMBER DISORDERS......Page 343 81.4 DISORDERS OF MICROBICIDAL ACTIVITY......Page 344 REFERENCES......Page 345 82.2 ANTERIOR PITUITARY......Page 347 82.3 POSTERIOR PITUITARY: GENETIC DISORDERS OF AVP DEFICIENCY......Page 350 REFERENCES......Page 351 83.2 THYROIDAL CONGENITAL HYPOTHYROIDISM......Page 352 83.4 GENETIC HYPERTHYROIDISM......Page 353 REFERENCES......Page 354 Chapter 84 - Parathyroid Disorders......Page 356 Further Reading......Page 359 85.2 TYPE 1 DIABETES MELLITUS......Page 360 85.3 TYPE 2 DIABETES MELLITUS......Page 361 REFERENCES......Page 362 Chapter 86 - Genetic Disorders of the Adrenal Gland......Page 372 FURTHER READING......Page 373 87.2 XY SEX REVERSAL (46,XY FEMALES)......Page 374 87.5 46,XX OVARIAN DYSGENESIS/PREMATURE OVARIAN FAILURE (POF)......Page 375 87.6 INTERNAL GENITAL DUCT ANOMALIES (MÜLLERIAN OR WOLFFIAN)......Page 376 FURTHER READING......Page 382 Chapter 88 - Cancer of the Breast and Female Reproductive Tract......Page 383 Metabolic Disorders......Page 385 Chapter 89 - Disorders of the Body Mass......Page 387 SUGGESTED READING......Page 388 Chapter 90 - Genetic Lipodystrophies......Page 389 Chapter 91 - Amino Acid Metabolism......Page 394 FURTHER READING......Page 395 Chapter 92 - Disorders of Carbohydrate Metabolism......Page 396 REFERENCES......Page 397 Chapter 93 - Congenital Disorders of Protein Glycosylation......Page 398 Chapter 94 - Purine and Pyrimidine Metabolism......Page 401 Chapter 95 - Lipoprotein and Lipid Metabolism......Page 404 REFERENCES......Page 405 Chapter 96 - Organic Acidemias and Disorders of Fatty Acid Oxidation......Page 406 REFERENCES......Page 408 97.3 TRANSCRIPTIONAL AND NONGENOMIC EFFECTS OF 1,25(OH)2D......Page 409 97.5 CALCIFEROL EXCESS STATE......Page 410 REFERENCES......Page 412 Chapter 98 - Inherited Porphyrias......Page 413 ERYTHROPOIETIC PORPHYRIAS......Page 414 Chapter 99 - Inherited Disorders of Human Copper Metabolism......Page 415 100.2 CLINICAL CONDITIONS......Page 416 REFERENCES......Page 418 Chapter 101 - Mucopolysaccharidoses......Page 419 FURTHER READING......Page 420 102.1 OLIGOSACCHARIDOSES......Page 421 102.2 DISORDERS ALLIED TO THE OLIGOSACCHARIDOSES......Page 423 Chapter 103 - Sphingolipid Disorders and the Neuronal Ceroid Lipofuscinoses or Batten Disease (Wolman Disease, Cholesterylester Storage Disease, and Cerebrotendinous Xanthomatosis)......Page 425 103.3 ACID LIPASE DEFICIENCY (WOLMAN DISEASE AND CHOLESTERYL ESTER STORAGE DISEASE)......Page 426 103.5 GALACTOSYLCERAMIDE LIPIDOSIS, GLOBOID CELL LEUKODYSTROPHY, OR KRABBE DISEASE: INTRODUCTION......Page 427 103.6 MAJOR BATTEN/NEURONAL CEROID LIPOFUSCINOSIS SYNDROMES......Page 429 Chapter 104 - Peroxisomal Disorders......Page 431 Mental and Behavioral Disorders......Page 435 Chapter 105 - The Genetics of Personality......Page 437 106.1 FRAGILE X SYNDROME......Page 439 FURTHER READING......Page 440 Chapter 107 - Dyslexia and Related Communication Disorders......Page 442 WEBSITES......Page 444 108.2 MOLECULAR GENETICS......Page 445 REFERENCES......Page 446 Chapter 109 - Autism Spectrum Disorders......Page 447 REFERENCES......Page 448 Chapter 110 - Genetics of Alzheimer Disease......Page 449 FURTHER READING......Page 450 Chapter 111 - Schizophrenia and Affective Disorders......Page 451 REFERENCES......Page 452 Chapter 112 - Addictive Disorders......Page 453 FURTHER READING......Page 454 Neurologic Disorders......Page 455 113.3 RISK FACTORS......Page 457 113.4 DIAGNOSIS, TREATMENT, AND OUTCOME......Page 458 REFERENCES......Page 459 Chapter 114 - Genetic Disorders of Cerebral Cortical Development......Page 460 REFERENCES......Page 461 Chapter 115 - Genetic Aspects of Human Epilepsy......Page 462 REFERENCES......Page 464 Chapter 116 - Basal Ganglia Disorders......Page 465 FURTHER READING......Page 466 WEBSITES......Page 467 118.4 MOLECULAR BASIS......Page 469 REFERENCES......Page 474 119.2 CONGENITAL SENSORY NEUROPATHY WITH ANHIDROSIS (HSAN TYPE IV)......Page 476 REFERENCES......Page 479 Chapter 120 - The Phakomatoses......Page 480 FURTHER READING......Page 485 Chapter 121 - Multiple Sclerosis and Other Demyelinating Disorders......Page 486 REFERENCES......Page 488 122.3 MONOGENIC DISORDERS CAUSING STROKE......Page 489 REFERENCES......Page 490 Chapter 123 - Primary Tumors of the Nervous System......Page 491 Neuromuscular Disorders......Page 493 Chapter 124 - Muscular Dystrophies......Page 495 REFERENCES......Page 497 Chapter 125 - Hereditary Motor and Sensory Neuropathies......Page 498 Chapter 126 - Congenital (Structural) Myopathies......Page 500 FURTHER READING......Page 501 127.2 PROXIMAL SMA AND VARIANTS......Page 502 REFERENCES......Page 503 Chapter 128 - Hereditary Muscle Channelopathies......Page 504 FURTHER READING......Page 505 Chapter 129 - The Myotonic Dystrophies......Page 506 REFERENCES......Page 507 130.1 CONGENITAL MYASTHENIC SYNDROMES......Page 508 130.2 ACQUIRED MYASTHENIAS......Page 509 REFERENCES......Page 510 Chapter 131 - Motor Neuron Disease......Page 511 Ophthalmologic Disorders......Page 513 132.2 RED–GREEN COLOR VISION DEFECTS......Page 515 REFERENCES......Page 517 Chapter 133 - Optic Atrophy......Page 518 REFERENCES......Page 519 134.2 IDENTIFICATION OF GLAUCOMA GENES USING LINKAGE ANALYSIS......Page 520 FURTHER READING......Page 521 Chapter 135 - Defects of the Cornea......Page 523 REFERENCES......Page 524 Chapter 136 - Congenital Cataracts and Genetic Anomalies of the Lens......Page 525 FURTHER READING......Page 526 Chapter 137 - Hereditary Retinal and Choroidal Dystrophies......Page 527 Chapter 138 - Strabismus......Page 529 139.4 CLASSIFICATION OF RETINOBLASTOMA......Page 530 139.6 TESTING ISSUES......Page 531 REFERENCES......Page 532 Chapter 140 - Anophthalmia, Microphthalmia, and Uveal Coloboma......Page 533 REFERENCES......Page 535 Deafness......Page 537 Chapter 141 - Hereditary Hearing Impairment......Page 539 USEFUL WEBSITES......Page 540 Craniofacial Disorders......Page 543 Chapter 142 - Clefting, Dental, and Craniofacial Syndromes......Page 545 FURTHER READING......Page 548 Chapter 143 - Craniosynostosis......Page 549 FURTHER READING......Page 560 Dermatologic Disorders......Page 561 144.1 DISORDERS OF MELANOCYTE DEVELOPMENT, DIFFERENTIATION, AND/OR MIGRATION......Page 563 144.3 DISORDERS OF MELANOCYTE SURVIVAL......Page 564 REFERENCES......Page 565 Chapter 145 - Ichthyosiform Dermatoses......Page 566 FURTHER READING......Page 567 Chapter 146 - Epidermolysis Bullosa......Page 568 REFERENCES......Page 572 Chapter 147 - Ectodermal Dysplasias......Page 573 REFERENCES......Page 578 Chapter 148 - Skin Cancer......Page 579 REFERENCES......Page 580 Chapter 149 - Psoriasis......Page 581 150.2 BIRT HOGG DUBÉ SYNDROME......Page 583 Chapter 151 - Inherited Disorders of the Hair......Page 585 Connective Tissue Disorders......Page 587 152.1.1 PREVALENCE......Page 589 ACKNOWLEDGMENTS......Page 592 FURTHER READING......Page 596 Chapter 153 - Ehlers–Danlos Syndrome......Page 597 153.1 TYPES OF EDS......Page 598 FURTHER READING......Page 600 Chapter 154 - Heritable Diseases Affecting the Elastic Fibers: Cutis Laxa, Pseudoxanthoma Elasticum, and Related Disorders......Page 601 FURTHER READING......Page 605 Skeletal Disorders......Page 607 Chapter 155 - Osteogenesis Imperfecta (and Other Disorders of Bone Matrix)......Page 609 FURTHER READING......Page 610 Chapter 156 - Disorders of Bone Density, Volume, and Mineralization......Page 612 FURTHER READING......Page 614 Chapter 157 - Chondrodysplasias......Page 615 FURTHER READING......Page 616 Chapter 158 - Abnormalities of Bone Structure......Page 617 Chapter 159 - Arthrogryposes (Multiple Congenital Contractures)......Page 619 RELEVANT WEBSITES......Page 620 Chapter 160 - Common Skeletal Deformities......Page 621 FURTHER READING......Page 622 161.3 FAMILIAL OSTEOARTHROPATHY......Page 623 161.5 MSELENI JOINT DISEASE......Page 624 REFERENCES......Page 625 Pathways......Page 627 162.2 COHESIN BIOLOGY......Page 629 162.3 OTHER DISORDERS OF COHESIN AND SISTER CHROMATID COHESION......Page 631 FURTHER READING......Page 633 Chapter 163 - Genes and Mechanisms in Human Ciliopathies......Page 634 Index......Page 637

For decades, Emery and Rimoin’s Principles and Practice of Medical Genetics has provided the ultimate source for practicing clinicians to learn how the study of genetics can be integrated into practice. Developed in parallel to the sixth edition, and featuring 174 original contributions from the many authors of the full set, this one volume work expertly condenses and synthesizes the most clinically relevant content, for convenient desk reference.

Helping to bridge the gap between high-level molecular genetics and individual application, it follows the multi-volume set in encompassing scientific fundamentals, full spectrum discussion of major inherited disorders, and actionable therapies. Clinically oriented information is supported by concise descriptions of the principles of genetics, research approaches, and analytics to embrace the evolving population of students, researchers, and practitioners who are integrating their work to provide advanced diagnosis, prevention and treatment of human disease.

This print volume is complemented and enhanced with online access to the complete text, online-only references, and high quality illustrations on www.expertconsult.com.

• Features 174 summarized contributions concisely discussing advances in cancer genetics, genomic technologies, and molecular genetics
• Contains hundreds of full colour illustrations supporting users with identification, concept illustration, and method processing
• Enhanced with full text online access, high quality illustrations, and online-only references at www.expertconsult.com

For decades, Emery and Rimoins Principles and Practice of Medical Genetics has provided the ultimate source for practicing clinicians to learn how the study of genetics can be integrated into practice. Developed in parallel to the sixth edition, and featuring 174 original contributions from the many authors of the full set, this one volume work expertly condenses and synthesizes the most clinically relevant content, for convenient desk reference. Helping to bridge the gap between high-level molecular genetics and individual application, it follows the multi-volume set in encompassing scientific fundamentals, full spectrum discussion of major inherited disorders, and actionable therapies. Clinically oriented information is supported by concise descriptions of the principles of genetics, research approaches, and analytics to embrace the evolving population of students, researchers, and practitioners who are integrating their work to provide advanced diagnosis, prevention and treatment of human disease. This print volume is complemented and enhanced with online access to the complete text, online-only references, and high quality illustrations on (http://www.expertconsult.com) www.expertconsult.com .