Chromosome Abnormalities and Genetic Counseling / Edition 4

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Overview


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 context of the recent developments in molecular cytogenetic analysis, but retaining always the major focus on the needs of the families in which these conditions occur. Thoroughly updated once again, this richly-illustrated text combines basic concepts of chromosomal analysis with practical applications of recent advances in molecular cytogentics. The book will give counselors the information that will enable them to help concerned parents accommodate and adapt to their particular chromosomal challenges and to determine what may be, for them, the best course of action.

The book contains black-and-white illustrations.

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Editorial Reviews

Teresa A. Hadro
The second edition of Gardner and Sutherland's work represents a valuable updating of their 1989 book. The authors have increased the text from 208 to 372 pages and the references from 26 to 70 pages. The expansion reflects, in the authors' words, the ^^evolution of cytogenetics to molecular cytogenetics,^^ and the reader's perusal of the thorough discussions of uniparental disomy, newly identified autosomal microdeletion syndromes, or of the dynamic mutation basis underlying the fragile X syndrome will offer evidence enough of the need for a second edition of this book. The authors' intent is ^^to provide accurate information about chromosomal conditions for those whose task it is to explain and interpret them.^^ This book fills a highly specific niche. It is an indispensable resource for clinical geneticists, genetic counselors, and students of medical genetics. A review of the table of contents highlights the practical nature of this book: Basic Concepts, Parent with a Chromosome Abnormality, Normal Parents with a Chromosomally Abnormal Child, Reproductive Failure, Prenatal Diagnosis. Subheadings make it easy for the clinician to quickly locate relevant information regarding consequences and risks of recurrence of chromosome abnormalities. Illustrations are pertinent, and many of them are suitable for use in the counseling session itself. This is a much needed resource with a highly specialized focus. As such, it will have a limited audience. This book belongs in the personal library of every clinical geneticist and genetic counselor and on the reference shelves of all medical libraries.
From The Critics
Reviewer: Teresa A. Hadro, MS(Children's Memorial Hospital)
Description: The second edition of Gardner and Sutherland's work represents a valuable updating of their 1989 book. The authors have increased the text from 208 to 372 pages and the references from 26 to 70 pages. The expansion reflects, in the authors' words, the "evolution of cytogenetics to molecular cytogenetics," and the reader's perusal of the thorough discussions of uniparental disomy, newly identified autosomal microdeletion syndromes, or of the dynamic mutation basis underlying the fragile X syndrome will offer evidence enough of the need for a second edition of this book.
Purpose: The authors' intent is "to provide accurate information about chromosomal conditions for those whose task it is to explain and interpret them."
Audience: This book fills a highly specific niche. It is an indispensable resource for clinical geneticists, genetic counselors, and students of medical genetics.
Features: A review of the table of contents highlights the practical nature of this book: Basic Concepts, Parent with a Chromosome Abnormality, Normal Parents with a Chromosomally Abnormal Child, Reproductive Failure, Prenatal Diagnosis. Subheadings make it easy for the clinician to quickly locate relevant information regarding consequences and risks of recurrence of chromosome abnormalities. Illustrations are pertinent, and many of them are suitable for use in the counseling session itself.
Assessment: This is a much needed resource with a highly specialized focus. As such, it will have a limited audience. This book belongs in the personal library of every clinical geneticist and genetic counselor and on the reference shelves of all medical libraries.

4 Stars! from Doody
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Product Details

  • ISBN-13: 9780195375336
  • Publisher: Oxford University Press, USA
  • Publication date: 11/11/2011
  • Series: Oxford Monographs on Medical Genetics Series
  • Edition description: New Edition
  • Edition number: 4
  • Pages: 648
  • Sales rank: 703,547
  • Product dimensions: 7.30 (w) x 10.10 (h) x 1.80 (d)

Meet the Author

Lisa G. Shaffer is President of Signature Genomic Laboratories. R.J. McKinlay Gardner is a Consultant Medical Geneticist at Northern Regional Genetic Service at Auckland City Hospital. Grant R. Sutherland is an Emeritus Geneticist at Women's and Children's Hospital in Adelaide, Australia.

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Table of Contents

Contents

BASIC CONCEPTS
1. Elements of medical cytogenetics
2. Chromosome analysis: classical and modern methodologies
3. The origins and consequences of chromosomal pathology
4. Deriving and using a risk figure

PARENT WITH A CHROMOSOMAL ABNORMALITY
5. Autosomal reciprocal translocations
6. Sex chromosome translocations
7. Robertsonian translocations
8. Centromere Fissions, Complementary Isochromosomes, Telomeric Fusions, Balancing Supernumerary Chromosomes, and Jumping Translocations
9. Inversions
10. Insertions
11. Autosomal ring chromosomes
12. Complex rearrangements
13. Parental sex chromosome aneuploidy
14. Parental autosomal aneuploidy
15. The fragile X syndromes

VARIANTS
16. Variant chromosomes and abnormalities of no phenotypic consequence
17. Copy number variants

NORMAL PARENT WITH A CHROMOSOMALLY ABNORMAL CHILD
18. Down syndrome, other full aneuploidies, and polyploidy
19. Structural rearrangements
20. Chromosomal disorders of sex development
21. Chromosome instability syndromes

DISORDERS ASSOCIATED WITH ABERRANT GENOMIC IMPRINTING
22. Uniparental disomy and disorders of imprinting

REPRODUCTIVE FAILURE
23. Gametogenesis and conception, pregnancy loss, and infertility

PRENATAL DIAGNOSIS
24. Parental age counseling and screening for fetal trisomy
25. Prenatal diagnostic procedures
26. Preimplantation genetic diagnosis
27. Chromosome abnormalities detected at prenatal diagnosis

NOXIOUS AGENTS
28. Gonadal cytogenetic damage from exposure to extrinsic agents

APPENDICES
A. Ideograms of human chromosomes and haploid autosomal lengths
B. Cytogenetic abbreviations and nomenclature
C. Determining 95 per cent confidence limits and the standard error

References
Index

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