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| Basic Concepts | |
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| Elements of medical cytogenetics | |
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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, and telomeric fusions | |
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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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| Variant chromosomes and abnormalities of no phenotypic consequence | |
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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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| The XY female, the XX male, and the true hermaphrodite | |
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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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| Appendices | |
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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 | |