Clinical Genetics : A Short Course

by Wilson, Golder N.

• ISBN13: 9780471298069
• ISBN10: 0471298069
• Edition: 1st
• Format: Paperback
• Copyright: 2000-03-31
• Publisher: Wiley-Liss

Summary

Clinical Genetics: A Short Course emphasizes clinical, rather than traditional human genetics, and is a vital resource for medical, clinical, and human geneticists, as well as other health care professionals.

Table of Contents

Preface	xiii
Roster of Cases	xv
PART I INHERITANCE AND PREDISPOSITION	1	(98)
Introduction to Clinical Genetics: Genes, Traits, and Pedigrees	3	(20)
What is Genetic? Definitions and the Role of Family History	3	(1)
Categories of Genetic and Congenital Diseases---Incidence and Impact in Medicine	4	(1)
The Genetic Approach in Medicine	5	(2)
Traits in Medicine	7	(3)
Correlating Traits with Genes: The Nature of Genetic Information	10	(1)
Pedigrees and Patterns of Transmission	10	(3)
Predicting Genetic Risk from Probabilities of Allele Segregation	13	(1)
Risk Assessment as a Part of Genetic Counseling	14	(2)
Laboratory Aspects of Genetics (The Genetic Hierarchy)	16	(2)
Ethical Issues in Genetics: A Preview	18	(5)
Genetics in Medicine	19	(2)
Answers	21	(1)
Solutions	21	(1)
Bibliography	22	(1)
Mendelian Inheritance	23	(22)
Mendelian Principles and Their Clinical Application	23	(2)
Autosomal Dominant Inheritance	25	(4)
Autosomal Recessive Inheritance	29	(3)
X-Linked Recessive Inheritance	32	(3)
Risk Calculations for Mendelian Disorders	35	(3)
From Genetic Diagnosis to Gene Isolation (A Preview)	38	(7)
Mendelian Inheritance	39	(2)
Answers	41	(1)
Solutions	41	(3)
Bibliography	44	(1)
Multifactorial Determination and the Genetics of Common Diseases	45	(14)
Multifactorial Traits: Genes Plus Environment	45	(1)
Quantitative Traits and the Idea of Multiple Genetic Loci	46	(3)
Setting the Threshold for Multifactorial Disease: Heredity and Environment	49	(2)
Genetic Relationships	51	(2)
Calculating Recurrence Risks Using the Multifactorial Determination/Threshold Model	53	(2)
The Measurement of Genetic Predisposition (Heritability): Twin Studies	55	(4)
Multifactorial Determination	56	(1)
Answers	57	(1)
Solutions	57	(1)
Bibliography	58	(1)
Population Genetics	59	(22)
Population Genetics and Human Variation	59	(1)
Mutation: The Cause of Polymorphism and Disease	60	(2)
Human Polymorphisms: The ABO and Rh Blood Groups	62	(2)
Population Frequencies of Polymorphisms: The Hardy-Weinberg Equilibrium	64	(3)
Population Differences in Allele Frequencies: Examples and Mechanisms	67	(4)
Consequences of Population Variability for Neonatal, Carrier, and Prenatal Screening	71	(1)
Evolution as Changes in Gene Frequencies in Response to Environment	72	(2)
Sociological Impact on Gene Frequencies: Fallacies Underlying Reproductive Sanctions	74	(7)
Population Genetics	77	(1)
Answers	78	(1)
Solutions	78	(1)
Bibliography	79	(2)
Measuring Genetic Predisposition: Common Diseases, Pharmacogenetics, and Ecogenetics	81	(18)
Measurement of Genetic Predisposition: Risk Factors for Common Diseases	82	(4)
Assessment of Risk Factors: Positive Predictive Value	86	(2)
Combined Risk Factors as the Guide to Prevention	88	(2)
Pharmacogenetics: Variable Drug Response due to Genetic Polymorphism and Ethnic Differences	90	(3)
Ecogenetics	93	(6)
Ecogenetics, Multifactorial Determination, and Risk Factors	95	(1)
Answers	96	(1)
Solutions	96	(1)
Bibliography	97	(2)
PART II LABORATORY GENETICS, NEW DEVELOPMENTS	99	(150)
From Gene to Trait: Levels of Genetic Information	101	(22)
Introduction	101	(3)
Gene Structure	104	(2)
Gene Replication and Expression	106	(4)
Regulation at the Gene Level	110	(1)
Regulation at the Protein Level: Biochemical Genetics	111	(3)
Genetic Anemias: Levels of Cellular and Molecular Delineation	114	(9)
Gene Expression and the Genetic Hierarchy	120	(1)
Answers	121	(1)
Solutions	121	(1)
Bibliography	121	(2)
Genetics at the Chromosome Level: Cytogenetics	123	(28)
Introduction: The Spectrum of Chromosomal Disease	124	(1)
Chromosomes and Cell Division	124	(1)
Cytogenetic Technology	125	(2)
Cytogenetic Notation	127	(5)
The Origin and Transmission of Chromosomal Aberrations	132	(3)
Karyotype/Phenotype Correlation and Indications for Chromosomal Studies	135	(4)
Chromosomal Syndromes: Polyploidy, Tetrasomy, Trisomy, and Partial Duplications	139	(2)
Chromosomal Syndromes: Monosomies and Partial Deletions	141	(1)
Interstitial Deletions and Microdeletions	142	(3)
Sex Chromosome Aneuploidy	145	(6)
Cytogenetics	148	(1)
Answers	149	(1)
Solutions	149	(1)
Bibliography	149	(2)
Genetics at the DNA Level: Molecular Genetics and DNA Diagnosis	151	(36)
DNA and the Clinician	152	(1)
Identifying DNA Segments in Genomic DNA	153	(3)
DNA Cloning and Gene Characterization	156	(3)
Genetic Linkage and Genetic Maps	159	(9)
Chromosome Jumping and Physical Mapping	168	(1)
Gene Characterization and DNA Diagnosis	169	(2)
The Molecular Delineation of Genetic Disorders	171	(9)
The Human Genome Project	180	(1)
Ethical Issues in Molecular Genetics	181	(6)
Molecular Genetics	183	(1)
Answers	184	(1)
Solutions	184	(2)
Bibliography	186	(1)
Genetics at the Cellular Level: Developmental, Cancer, and Immunogenetics	187	(40)
Introduction	188	(1)
Regulation of Cell Growth, Differentiation, and Communication	188	(3)
Developmental Genetics: Animal Models	191	(14)
Human Developmental Genetics	205	(7)
Cancer Genetics	212	(4)
Inherited Cancers and Cancer Syndromes	216	(5)
Immunogenetics	221	(6)
Developmental Genetics	223	(1)
Answers	223	(1)
Solutions	223	(1)
Bibliography	224	(3)
New Applications of Clinical Genetics: Atypical Inheritance Mechanisms and Gene Therapy	227	(22)
Introduction---Early Exceptions to Mendel's Rules	228	(1)
Somatic and Germ-Line Mosaicism	228	(2)
Prader-Willi Syndrome and the Recognition of Genomic Imprinting	230	(2)
Uniparental Disomy and Genomic Imprinting	232	(4)
Disorders Due to DNA Duplication: Microduplications and Expanding Triplet Repeats	236	(4)
Gene Targeting and Gene Therapy	240	(9)
New Applications of Clinical Genetics	245	(1)
Answers	245	(1)
Solutions	246	(1)
Bibliography	246	(3)
PART III CLINICAL GENETICS	249	(200)
Pediatric Genetics: Birth Defects and Syndromology	252	(35)
Introduction	252	(2)
Approach to the Child with Congenital Anomalies---Categories and Terminology	254	(7)
The Dysmorphology Examination: Gestalt, Analytic, and Interpretive Approaches	261	(3)
Clinical Problems with High Risks for Syndromes	264	(7)
Medical Management of Malformation Syndromes	271	(2)
Chromosomal Syndromes	273	(1)
Malformation Syndromes Exhibiting Mendelian Inheritance Including Metabolic Dysplasias	273	(2)
Malformation Syndromes with Abnormal Growth Including the Skeletal Dysplasias	275	(2)
Malformation Syndromes Due to Teratogens	277	(3)
Malformation Syndromes and Associations of Unknown Cause	280	(7)
Dysmorphology	282	(1)
Answers	283	(1)
Solutions	283	(1)
Bibliography	284	(3)
Pediatric Genetics: Inborn Errors of Metabolism	287	(40)
Introduction	288	(3)
Recognizing Metabolic Diseases	291	(3)
Disorders of Carbohydrate Metabolism	294	(4)
Disorders of Amino Acid Metabolism	298	(8)
Fatty Acid Oxidation Disorders and Organic Acidemias	306	(4)
Storage Diseases: Lipidoses and Mucolipidoses (Oligosaccharidoses)	310	(4)
Organellar Disorders	314	(3)
Genetic Screening	317	(4)
Treatment of Metabolic Disorders: Review and Summary	321	(6)
Inborn Errors of Metabolism	323	(1)
Answers	324	(1)
Solutions	324	(1)
Bibliography	324	(3)
Genetics in the Surgical Specialities	327	(34)
Introduction: Evaluation and Risks of Surgically Correctible Congenital Anomalies	327	(2)
General Pediatric Surgery	329	(5)
Craniofacial and Plastic Surgery	334	(6)
Cardiothoracic Surgery	340	(4)
Neurosurgery	344	(3)
Orthopedic surgery	347	(3)
Urology	350	(6)
Cancer Surgery	356	(5)
Genetics in the Surgical Specialties	356	(1)
Answers	357	(1)
Solutions	357	(1)
Bibliography	358	(3)
Genetics and Adult Medicine	361	(34)
Introduction	361	(1)
Cardiology	362	(6)
Autoimmune Disorders	368	(2)
Medical Subspecialty Diseases	370	(7)
Neurologic and Psychiatric Diseases	377	(7)
Genetics of Common Cancers	384	(11)
Genetics and Adult Medicine	389	(1)
Answers	389	(1)
Solutions	389	(2)
Bibliography	391	(4)
Reproductive Genetics and Prenatal Diagnosis	395	(30)
Introduction	396	(1)
Genetic Factors in Infertility and Reproductive Failure	396	(7)
Preconceptional Counseling and the Prenatal History	403	(2)
Options for Altering Fertilization, Implantation, or Delivery	405	(3)
Routine Prenatal Care	408	(3)
Prenatal Diagnosis of Genetic Disease	411	(7)
Fetal Surgery and Fetal Treatment	418	(7)
Reproductive Genetics and Prenatal Diagnosis	419	(1)
Answers	420	(1)
Solutions	420	(1)
Bibliography	421	(4)
Genetics, Allied Health, and Preventive Management: The Clinical Genetics Care Pathway	425	(24)
Introduction	426	(2)
The Role of Nursing in Genetics	428	(2)
The Role of Genetic Counselors	430	(2)
The Role of Social Workers in Genetics	432	(2)
The Role of Nutritional, Occupational, Physical, and Speech Therapists in Genetics	434	(1)
The Role of Psychologists and School Professionals in Genetics	435	(1)
Genetic Care Pathway and Preventive Management Guidelines	436	(6)
Ethical Considerations in the Management of Genetic Disorders	442	(7)
Allied Health and Preventive Management	444	(1)
Answers	445	(1)
Solutions	446	(3)
Glossary	449	(12)
Index	461