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.

Table of Contents

• Preface
• Foreword
• Personal memories of David Rimoin
• Basic Principles
• 1 History of Medical Genetics Victor A McKusick and Peter S Harper
• 2 Medicine in a Genetic Context Barton Childs and Reed E Pyeritz
• 3 Nature and Frequency of Genetic Disease Bruce R Korf, David L Rimoin, and Reed E Pyeritz
• 4 Genomics and Proteomics Raju Kucherlapati
• 5 Genome and Gene Structure Daniel H Cohn
• 6 Epigenetics Rosanna Weksberg, Darci T Butcher, Daria Grafodatskaya, Sanaa Choufani, and Benjamin Tycko
• 7 Human Gene Mutation in Inherited Disease: Molecular Mechanisms and Clinical Consequences Stylianos E Antonarakis and David N Cooper
• 8 Genes in Families Jackie Cook
• 9 Analysis of Genetic Linkage Rita M Cantor
• 10 Chromosomal Basis of Inheritance M Fady Mikhail
• 11 Mitochondrial Medicine: The Mitochondrial Biology and Genetics of Metabolic and Degenerative Diseases, Cancer, and Aging, Douglas C Wallace, Marie T Lott, and Vincent Procaccio
• 12 Multifactorial Inheritance and Complex Diseases Christine W Duarte, Laura K Vaughan, T Mark Beasley, and Hemant K Tiwari
• 13 Population Genetics, Bronya J B Keats and Stephanie L Sherman
• 14 Pathogenetics of Disease, Reed E Pyeritz
• 15 Human Developmental Genetics, Wen-Hann Tan, Edward C Gilmore, and Hagit N Baris
• 16 Twins and Twinning, Jodie N Painter, Sarah J Medland, Grant W Montgomery, and Judith G Hall
• 17 The Molecular Biology of Cancer, Edward S Tobias
• 18 The Biological Basis of Aging: Implications for Medical Genetics, Junko Oshima, George M Martin, and Fuki M Hisama
• 19 Pharmacogenetics and Pharmacogenomics, Daniel W Nebert and Elliot S Vesell
• General Principles
• 20 Genetic Evaluation for Common Diseases of Adulthood, Maren T Scheuner and Shannon Rhodes
• 21 Genetic Counseling and Clinical Risk Assessment, R Lynn Holt and Angela Trepanier
• 22 Cytogenetic Analysis, Nancy B Spinner, Malcolm A Ferguson-Smith, and David H Ledbetter
• 23 Diagnostic Molecular Genetics, Wayne W Grody and Joshua L Deignan
• 24 Heterozygote Testing and Carrier Screening, Matthew J McGinniss and Michael M Kaback
• 25 Prenatal Screening for Neural Tube Defects and Aneuploidy, Amelia L M Sutton and Joseph R Biggio
• 26 Techniques for Prenatal Diagnosis, Lee P Shulman and Sherman Elias
• 27 Neonatal Screening, Richard W Erbe and Harvey L Levy
• 28 Enzyme Replacement and Pharmacologic Chaperone Therapies for Lysomal Storage Disease, Robert J Desnick, Edward H Schuchman, Kenneth H Astrin, and Seng H Cheng
• 29 Gene Therapy: From Theoretical Potential to Clinical Implementation, Nicholas S R Sauderson, Maria G Castro, and Pedro R Lowenstein
• 30 Ethical and Social Issues in Clinical Genetics, Angus John Clarke
• 31 Legal Issues in Genetic Medicine, Philip R Reilly
• Applications to Clinical Problems
• 32 Genetics of Female Infertility in Humans, Bala Bhagavath and Lawrence C Layman
• 33 Genetics of Male Infertility, Csilla Krausz, Chiara Chianese, Ronald S Swerdloff, and Christina Wang
• 34 Fetal Loss, Rhona Schreck and John Williams III
• 35 A Clinical Approach to the Dysmorphic Child, Kenneth L Jones and Marilyn C Jones
• 36 Clinical Teratology, Jan M Friedman and James W Hanson
• 37 Neurodevelopmental Disabilities: Global Developmental Delay, Intellectual Disability, and Autism, John B Moeschler
• 38 Abnormal Body Size and Proportion, John M Graham, Deepika D'Cunha Burkardt, and David L Rimoin
• 39 Susceptibility and Response to Infection, Michael F Murray
• 40 Transplantation Genetics, Steven Ringquist, Ying Lu, Massimo Trucco, and Gaia Bellone
• 41 The Genetics of Disorders Affecting the Premature Newborn, Aaron Prosnitz, Jeffrey R Gruen, and Vineet Bhandari
• 42 Disorders of DNA Repair and Metabolism, Sharon E Plon
• Applications to Specific Disorders
• Chromosomal Disorders
• 43 Autosomal Trisomies, Cynthia J Curry
• 44 Sex Chromosome Abnormalities, Claus H Gravholt
• 45 Deletions and Other Structural Abnormalities of the Autosomes, Nancy B Spinner, Laura K Conlin, Surabhi Mulchandani, and Beverly S Emanuel
• Cardiovascular Disorders
• 46 Congenital Heart Defects, Rocio Moran and Nathaniel H Robin
• 47 Inherited Cardiomyopathies, Polakit Teekakirikul, Carolyn Y Ho, and Christine E Seidman
• 48 Heritable and Idiopathic Forms of Pulmonary Arterial Hypertension, Eric D Austin, John H Newman, James E Loyd, and John A Phillips
• 49 Hereditary Hemorrhagic Telangiectasia (Osler – Weber – Rendu Syndrome), Alan E Guttmacher, Douglas A Marchuk, Scott O Trerotola, and Reed E Pyeritz
• 50 Hereditary Disorders of the Lymphatic System and Varicose Veins, Robert E Ferrell and Reed E Pyeritz
• 51 The Genetics of Cardiac Electrophysiology in Humans, Reed E Pyeritz
• 52 Genetics of Blood Pressure Regulation, Frank S Ong, Kenneth E Bernstein, and Jerome I Rotter
• 53 Preeclampsia, Anthony R Gregg
• 54 Common Genetic Determinants of Coagulation and Fibrinolysis, Angela M Carter, Kristina F Standeven, and Peter J Grant
• 55 Genetics of Atherosclerotic Cardiovascular Disease, Atif N Qasim and Muredach P Reilly
• 56 Disorders of the Venous System, Pascal Brouillard, Nisha Limaye, Laurence M Boon, and Miikka Vikkula
• 57 Capillary Malformation/Arteriovenous Malformation, Nicole Revencu, Laurence M Boon, and Miikka Vikkula
• Respiratory Disorders
• 58 Cystic Fibrosis, Garry R Cutting
• 59 Genetic Underpinnings of Asthma and Related Traits, Hakon Hakonarson, Michael E March, and Patrick M A Sleiman
• 60 Hereditary Pulmonary Emphysema, Chad K Oh and Nestor A Molfino
• 61 Interstitial and Restrictive Pulmonary Disorders, William E Lawson and James E Loyd
• Renal Disorders
• 62 Congenital Anomalies of the Kidney and Urinary Tract, Grace J Noh, Rosemary Thomas-Mohtat, and Elaine S Kamil
• 63 Cystic Diseases of the Kidney, Angela Sun, Raymond Y Wang, and Dechu P Puliyanda
• 64 Nephrotic Disorders, Hannu Jalanko and Helena Kääriäinen
• 65 Renal Tubular Disorders, Richard E Hillman
• 66 Cancer of the Kidney and Urogenital Tract, Eamonn R Maher
• Gastrointestinal Disorders
• 67 Gastrointestinal Tract and Hepatobiliary Duct System, Eberhard Passarge
• 68 Bile Pigment Metabolism and Its Disorders, Namita Roy Chowdhury, Jayanta Roy Chowdhury, and Yesim Avsar
• 69 Cancer of the Colon and Gastrointestinal Tract, C Richard Boland, Barbara Jung, and John M Carethers
• Hematologic Disorders
• 70 Hemoglobinopathies and Thalassemias, John Old
• 71 Other Hereditary Red Blood Cell Disorders, Bertil Glader
• 72 Hemophilias and Other Disorders of Hemostasis, Jordan A Shavit and David Ginsburg
• 73 Rhesus and Other Fetomaternal Incompatibilities, Gregory Lau
• 74 Leukemias, Lymphomas, and Other Related Disorders, Yanming Zhang and Janet D Rowley
• 75 Immunologic Disorders, Nancy L Reinsmoen, Kai Cao, and Chih-Hung Lai
• 76 Systemic Lupus Erythematosus, Yun Deng, Bevra H Hahn, and Betty P Tsao
• 77 Rheumatoid Disease and Other Inflammatory Arthropathies, Sarah Keidel, Catherine Swales, and Paul Wordsworth
• 78 Amyloidosis and Other Protein Deposition Diseases, Merrill D Benson
• 79 Immunodeficiency Disorders, Rochelle Hirschhorn, Kurt Hirschhorn, and Luigi D Notarangelo
• 80 Inherited Complement Deficiencies, Kathleen E Sullivan
• Endocrinologic Disorders
• 81 Disorders of Leukocyte Function, Harry R Hill, Attila Kumànovics, and Kuender D Yang
• 82 Genetic Disorders of the Pituitary Gland, Amy Potter, John A Phillips, and David L Rimoin
• 83 Thyroid Disorders, Michel Polak and Gabor Szinnai
• 84 Parathyroid Disorders, Geoffrey N Hendy, Murat Bastepe, and David E C Cole
• 85 Diabetes Mellitus, Leslie J Raffel and Mark O Goodarzi
• 86 Genetic Disorders of the Adrenal Gland, Karen Lin-Su, Oksana Lekarev, and Maria I New
• 87 Disorders of the Gonads, Genital Tract, and Genitalia, Joe Leigh Simpson
• 88 Cancer of the Breast and Female Reproductive Tract, Ora Karp Gordon
• Metabolic Disorders
• 89 Disorders of the Body Mass, Patricia A Donohoue and Omar Ali
• 90 Genetic Lipodystrophies, Abhimanyu Garg
• 91 Amino Acid Metabolism, Raymond Y Wang, William R Wilcox, and Stephen D Cederbaum
• 92 Disorders of Carbohydrate Metabolism, Priya S Kishnani and Yuan-Tsong Chen
• 93 Congenital Disorders of Protein Glycosylation, Jaak Jaeken
• 94 Purine and Pyrimidine Metabolism, Naoyuki Kamatani, H A Jinnah, Raoul C M Hennekam, and André B P van Kuilenburg
• 95 Lipoprotein and Lipid Metabolism, Robert A Hegele
• 96 Organic Acidemias and Disorders of Fatty Acid Oxidation, Jerry Vockley
• 97 Vitamin D Metabolism or Action, Elizabeth A Streeten and Michael A Levine
• 98 Inherited Porphyrias, R J Desnick and Manisha Balwani, and Karl E Anderson
• 99 Inherited Disorders of Human Copper Metabolism, Stephen G Kaler and Seymour Packman
• 100 Iron Metabolism and Related Disorders, Kaveh Hoda, Christopher L Bowlus, Thomas W Chu, and Jeffrey R Gruen
• 101 Mucopolysaccharidoses, J Ed Wraith
• 102 Oligosaccharidoses: Disorders Allied to the Oligosaccharidoses, Jules G Leroy
• 103 Sphingolipid Disorders and the Neuronal Ceroid Lipofuscinoses or Batten Disease (Wolman Disease, Cholesterylester Storage Disease, and Cerebrotendinous Xanthomatosis), Rose-Mary Boustany, Ibraheem Al-Shareef, and Sariah El-Haddad
• 104 Peroxisomal Disorders, Ronald J A Wanders
• Mental and Behavioral Disorders
• 105 The Genetics of Personality, Matt McGue and Lindsay K Matteson
• 106 Fragile X Syndrome and X-Linked Intellectual Disability, Kathryn B Garber, Stephen T Warren, and Jeannie Visootsak
• 107 Dyslexia and Related Communication Disorders, Angela Friend, Bruce F Pennington, Shelley D Smith, and Jeffrey W Gilger
• 108 Attention-Deficit/Hyperactivity Disorder, Stephen V Faraone and Alysa E Doyle
• 109 Autism Spectrum Disorders, Sunil Q Mehta and Daniel H Geschwind
• 110 Genetics of Alzheimer Disease, Adam C Naj, Regina M Carney, Susan E Hahn, Margaret A Pericak-Vance, Michael A Slifer, and Jonathan L Haines
• 111 Schizophrenia and Affective Disorders, Jonathan D Picker
• 112 Addictive Disorders, David Goldman, Paola Landi, and Francesca Ducci
• Neurologic Disorders
• 113 Neural Tube Defects, Richard H Finnell, Timothy M George, and Laura E Mitchell
• 114 Genetic Disorders of Cerebral Cortical Development, Ganeshwaran H Mochida, Annapurna Poduri, and Christopher A Walsh
• 115 Genetic Aspects of Human Epilepsy, Asuri N Prasad and Chitra Prasad
• 116 Basal Ganglia Disorders, Andrew B West, Michelle Gray, and David G Standaert
• 117 The Hereditary Ataxias, Puneet Opal and Huda Zoghbi
• 118 Hereditary Spastic Paraplegia, John K Fink
• 119 Autonomic and Sensory Disorders, Felicia B Axelrod
• 120 The Phakomatoses, Susan M Huson and Bruce R Korf
• 121 Multiple Sclerosis and Other Demyelinating Disorders, A Dessa Sadovnick
• 122 Genetics of Stroke, Mateusz G Adamski and Alison E Baird
• 123 Primary Tumors of the Nervous System, Angel A Alvarez and Markus Bredel
• Neuromuscular Disorders
• 124 Muscular Dystrophies, Anna Sarkozy, Kate Bushby, and Eugenio Mercuri
• 125 Hereditary Motor and Sensory Neuropathies, Wojciech Wiszniewski, Kinga Szigeti, and James R Lupski
• 126 Congenital (Structural) Myopathies, Heinz Jungbluth and Carina Wallgren-Pettersson
• 127 Spinal Muscular Atrophies, Sabine Rudnik-Schöneborn and Klaus Zerres
• 128 Hereditary Muscle Channelopathies, Frank Lehmann-Horn, Reinhardt Rüdel, and Karin Jurkat-Rott
• 129 The Myotonic Dystrophies, Chris Turner
• 130 Hereditary and Autoimmune Myasthenias, David Beeson
• 131 Motor Neuron Disease, Teepu Siddique, H X Deng, and Senda Ajroud-Driss
• Ophthalmologic Disorders
• 132 Genetics of Color Vision Defects, Samir S Deeb and Arno G Motulsky
• 133 Optic Atrophy, Grace C Shih and Brian P Brooks
• 134 Glaucoma, Janey L Wiggs
• 135 Defects of the Cornea, R Krishna Sanka, Elmer Tu, and Joel Sugar
• 136 Congenital Cataracts and Genetic Anomalies of the Lens, Arlene V Drack, Yaron S Rabinowitz, and Edward Cotlier
• 137 Hereditary Retinal and Choroidal Dystrophies, Suma P Shankar
• 138 Strabismus, J Bronwyn Bateman and Sherwin J Isenberg
• 139 Retinoblastoma and the RB1 Cancer Syndrome, A Linn Murphree, Robin D Clark, Linda M Randolph, Uma M Sachdeva, Dan S Gombos, and Joan M O'Brien
• 140 Anophthalmia, Microphthalmia, and Uveal Coloboma, Brian P Brooks
• Deafness
• 141 Hereditary Hearing Impairment, Rena Ellen Falk and Arti Pandya
• Craniofacial Disorders
• 142 Clefting, Dental, and Craniofacial Syndromes, Jeffrey C Murray and Mary L Marazita
• 143 Craniosynostosis, Ethylin Wang Jabs and Amy Feldman Lewanda
• Dermatologic Disorders
• 144 Abnormalities of Pigmentation, Richard A Spritz and Vincent J Hearing
• 145 Ichthyosiform Dermatoses, Howard P Baden and John J DiGiovanna
• 146 Epidermolysis Bullosa, Cristina Has, Leena Bruckner-Tuderman, and Jouni Uitto
• 147 Ectodermal Dysplasias, Dorothy Katherine Grange
• 148 Skin Cancer, Julia A Newton Bishop and Rosalyn Jewell
• 149 Psoriasis, Johann E Gudjonsson and James T Elder
• 150 Cutaneous Hamartoneoplastic Disorders, Katherine L Nathanson
• 151 Inherited Disorders of the Hair, Mazen Kurban and Angela M Christiano
• Connective Tissue Disorders
• 152 Marfan Syndrome and Related Disorders, Reed E Pyeritz
• 153 Ehlers – Danlos Syndrome, Peter H Byers
• 154 Heritable Diseases Affecting the Elastic Fibers: Cutis Laxa, Pseudoxanthoma Elasticum, and Related Disorders, Jouni Uitto
• Skeletal Disorders
• 155 Osteogenesis Imperfecta (and Other Disorders of Bone Matrix), Craig Munns and David Sillence
• 156 Disorders of Bone Density, Volume, and Mineralization, Maria Descartes and David O Sillence
• 157 Chondrodysplasias, David, Rimoin, Ralph Lachman, and Sheila Unger
• 158 Abnormalities of Bone Structure, William A Horton
• 159 Arthrogryposes (Multiple Congenital Contractures), Judith G Hall
• 160 Common Skeletal Deformities, William A Horton
• 161 Hereditary Noninflammatory Arthropathies, Mariko L Ishimori
• Pathways
• 162 Pathways—Cohesinopathies, Matthew A Deardorff and Ian D Krantz
• 163 Genes and Mechanisms in Human Ciliopathies, Dagan Jenkins and Philip L Beales