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| Basic Concepts | |
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| Elements of Medical Cytogenetics | |
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| Chromosome Analysis | |
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| The Origins and Consequences of Chromosome Pathology | |
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| Deriving and Using a Risk Figure | |
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| Parent with a Chromosomal Abnormality | |
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| Autosomal Reciprocal Translocations | |
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| Sex Chromosome Translocations | |
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| Robertsonian Translocations | |
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| Centromere Fissions, Complementary Isochromosomes, Telomeric Fusions, Balancing Supernumerary Chromosomes, and Jumping Translocations | |
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| Inversions | |
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| Insertions | |
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| Autosomal Ring Chromosomes | |
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| Complex Rearrangements | |
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| Parental Sex Chromosome Aneuploidy | |
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| Parental Autosomal Aneuploidy | |
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| The Fragile X Syndromes | |
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| Variants | |
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| Variant Chromosomes and Abnormalities of No Phenotypic Consequence | |
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| Copy Number Changes | |
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| Normal Parents with a Chromosomally Abnormal Child | |
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| Down Syndrome, Other Full Aneuploidies, and Polyploidy | |
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| Structural Rearrangements | |
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| Chromosomal Disorders of Sex Development | |
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| Chromosome Instability Syndromes | |
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| Disorders Associated with Aberrant Genomic Imprinting | |
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| Uniparental Disomy and Disorders of Imprinting | |
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| Reproductive Failure | |
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| Gametogenesis and Conception, Pregnancy Loss and Infertility | |
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| Prenatal Diagnosis | |
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| Parental Age Counseling and Screening for Fetal Trisomy | |
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| Prenatal Diagnostic Procedures | |
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| Preimplantation Genetic Diagnosis | |
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| Chromosome Abnormalities Detected at Prenatal Diagnosis | |
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| Noxious Agents | |
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| Gonadal Cytogenetic Damage from Exposure to Extrinsic Agents | |
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| Appendixes | |
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| Ideograms of Human Chromosomes, and Haploid Autosomal Lengths | |
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| Cytogenetic Abbreviations and Nomenclature | |
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| Determining 95 Percent Confidence Limits, and the Standard Error | |
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| References | |
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| Index | |