Chromosome abnormalities and genetic counseling / R.J. McKinlay Gardner, Grant R. Sutherland, Lisa G. Shaffer.

Includes bibliographical references and index.

Print version record.

Basic concepts -- Elements of medical cytogenetics -- Chromosome analysis -- Origins and consequences of chromosome pathology -- Deriving and using a risk figure -- Parent with a chromosomal abnormality -- ALutosomal reciprocal translocations -- Sex chromosome translocations -- Robertsonian translocations -- Centromere fissions, complementary isochromosomes, telomeric fusions, balancing supernumerary chromosomes, and jumping translocations -- Inversions -- Insertions -- Autosomal ring chromosomes -- Complex rearrangements -- Parental sex chromosome aneuploidy -- Parental autosomal aneuploidy -- Fragile X syndromes -- Variants -- Variant chromosomes and abnormalities of no phenotypic consequence -- Copy number changes -- Normal parents with a chromosomally abnormal child -- Down syndrome, other full aneuploidies, and polyploidy -- Structural rearrangements -- Chromosomal disorders of sex development -- Chromosome instability syndromes -- Disorders associated with aberrant genomic imprinting -- Uniparental disomy and disorders of imprinting -- Reproductive failure -- Gametogenesis and conception, pregnancy loss and infertility -- Prenatal diagnosis -- Parental age counseling and screening for fetal trisomy -- Prenatal diagnostic procedures -- Preimplantation genetic diagnosis -- Chromosome abnormalities detected at prenatal diagnosis -- Noxious agents -- Gonadal cytogenic damage from exposure to extrinsic agents -- Ideograms of human chromosomes, and haploid autosomal lengths -- Cytogenetic abbreviations and nomenclature -- Determining 95 percent confidence limits and the standard error.

Chromosome abnormalities have been known for over 50 years, though the methods of analysis have become increasing more sophisticated and precise. Surprisingly, the questions that parents and families raise in genetic counseling have changed little over that period. Questions like, "Why did an abnormality happen? Why did it cause the problems we see in our child? Would it happen again in a future child? How could we avoid it happening again?" are common concerns for families. This new edition of Chromosome Abnormalities and Genetic Counseling deals with these universal questions, and in the con.

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