Chromosome Abnormalities and Genetic Counseling

by Gardner, R. J. M.; Sutherland, G. R.

• ISBN13: 9780195106152
• ISBN10: 0195106156
• Edition: 2nd
• Format: Hardcover
• Copyright: 1996-07-11
• Publisher: Oxford University Press

Summary

There have been many advances in clinical cytogenetics since the first edition of this book appeared in 1989. The authors have written more expansively on segregation and risks in reciprocal translocations, X-autosome translocations, inversions, insertions, and prenatal diagnosis. The deletion syndromes have become more numerous, and more precisely defined, and this required treatment. Fluorescence in situ hybridization has become a routinely applied methodology, and its use has extended the power, and increased the sophistication, of the discipline of clinical cytogenetics. The Human Genome Project is unravelling the complexity of our genetic inheritance, and readers will find evidence of its impact on the practicalities of human cytogenetics throughout the book. Two phrases not used at all in the first edition are dynamic mutation and genomic imprinting. The fragile X syndrome now has the status of the prototypical dynamic mutation. The authors completely rewrote this chapter, giving it a much more molecular character. The Prader-Willi and Angelman syndromes, likewise, have become the classic examples of genomic imprinting and uniparental disomy. Compared with the tentative comments on these syndromes in the first edition, they now receive more extensive treatment. Yet, while the subject has become more complicated, the book's aim remains the same; to furnish a straightforward scientific description that will help readers understand the various chromosome abnormalities encountered in clinical practice, and to provide practical advice that can be passed on to the people who have, or whose families have, these abnormalities.

Author Biography

Dr. R. J. McKinlay Gardner has been a practicing clinical geneticist for 30 years, presently with Genetic Health Services Victoria in Melbourne, Australia, and has a special interest in chromosomal conditions. Prof. Grant R. Sutherland has recently stepped aside as Director of the Cytogenetics and Molecular Genetics Department at the Women's and Children's Hospital, Adelaide, Australia. He made signal contributions to research on fragile sites and the fragile X syndrome in particular, and was President of HUGO in 1996-1997

Table of Contents

Basic Concepts
Elements of medical cytogenetics	p. 3
The origins and consequences of chromosome pathology	p. 21
Deriving and using a risk figure	p. 50
Parent with a Chromosomal Abnormality
Autosomal reciprocal translocations	p. 59
Sex chromosome translocations	p. 98
Robertsonian translocations	p. 122
Centromere fissions, complementary isochromosomes, and telomeric fusions	p. 138
Inversions	p. 142
Insertions	p. 163
Autosomal ring chromosomes	p. 178
Complex rearrangements	p. 186
Parental sex chromosome aneuploidy	p. 195
Parental autosomal aneuploidy	p. 210
The fragile X syndromes	p. 218
Variant chromosomes and abnormalities of no phenotypic consequence	p. 233
Normal Parents with a Chromosomally Abnormal Child
Down syndrome, other full aneuploidies, and polyploidy	p. 249
Structural rearrangements	p. 264
The XY female, the XX male, and the true hermaphrodite	p. 294
Chromosome instability syndromes	p. 301
Disorders Associated with Aberrant Genomic Imprinting
Uniparental disomy and disorders of imprinting	p. 311
Reproductive Failure
Gametogenesis and conception, pregnancy loss, and infertility	p. 339
Prenatal Diagnosis
Parental age counseling and screening for fetal trisomy	p. 363
Prenatal diagnostic procedures	p. 373
Preimplantation genetic diagnosis	p. 381
Chromosome abnormalities detected at prenatal diagnosis	p. 392
Noxious Agents
Gonadal cytogenetic damage from exposure to extrinsic agents	p. 435
Appendices
Ideograms of human chromosomes and haploid autosomal lengths	p. 447
Cytogenetic abbreviations and nomenclature	p. 452
Determining 95 percent confidence limits and the standard error	p. 456
References	p. 457
Index	p. 557
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