Chromosome Abnormalities and Genetic Counseling / Edition 3

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Overview


Chromosomal abnormalities can cause disability in children, and reproductive difficulty in parents. Many parents and couples seek genetic counseling in order to learn why they, or a relative, may have had a child with a particular collection of medical problems and/or intellectual disability. There may have been a history of multiple miscarriage, or infertility. They may want to know the outlook for a pregnancy, and what the risks might be. These and other questions concerning chromosome abnormalities are addressed in this standard text, which will be of interest to genetic counselors, medical geneticists, pediatricians and obstetricians, infertility specialists, and laboratory cytogeneticists.
This third edition has been thorougly updated, and is richly illustrated and fully referenced. New chapters have been written on preimplantation diagnosis and on reproductive risks due to environmental agents. The practical applications of recent advances in molecular cytogentics are noted. The book will give counselors the information that will enable them to help concerned parents accommodate to their particular "chromosomal situation", 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

From the Publisher

From reviews of previous editions:

"As one who has watched human cytogenetics from its birth in 1956 to its present extraordinary capabilities and who counsels families with chromosomal problems without ever having learned how to prepare a karyotype, I found this book a godsend...The writing is rigorous and often elegant. Gardner and Sutherland have the necessary knowledge to and provide useful assessments of the available information."--New England Journal of Medicine

"Chromosome Abnormalities and Genetic Counseling is a comprehensive text encompassing a full complement of cytogenetic information. Concepts are introduced such as basic cytogenetic elements, ethical and counseling issues and the handling of risk figures. A brief and concise review of chromosome pathology is included, enough to refresh the memory without insulting the reader's intelligence...This book is a wonderful asset to any library and can serve either as an educational text or as a reference."--Applied Cytogentics

"...this book has been written primarily for two groups of readers: the genetic counsellor (both medical and nonmedical) and the cytogenetic laboratory scientist. There are substantial sections of the book, however, which are of relevance to paediatricians...The authors are to be congratulated, not only because their book is one of the best of its kind, written in a clear and balanced manner and practically oriented !"--Journal of Paediatrics and Child Health

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: 9780195149609
  • Publisher: Oxford University Press, USA
  • Publication date: 8/28/2003
  • Series: Oxford Monographs on Medical Genetics Series, #46
  • Edition description: REV
  • Edition number: 3
  • Pages: 604
  • Product dimensions: 10.10 (w) x 7.00 (h) x 1.40 (d)

Table of Contents

1 Elements and medical cytogenetics 3
2 The origins and consequences of chromosome pathology 19
3 Deriving and using a risk figure 49
4 Autosomal reciprocal translocations 59
5 Sex chromosome translocations 95
6 Robertsonian translocations 115
7 Centromere fissions 133
8 Inversions 137
9 Insertions 159
10 Autosomal rings 177
11 Complex rearrangements 182
12 Parental sex chromosome aneuploidy 191
13 Parental autosomal aneuploidy 203
14 The fragile X syndromes 209
15 Variant chromosomes 228
16 Down syndrome, other full aneuploidies, and polyploidy 243
17 Structural rearrangements and uniparental disomy 259
18 The XY female, the XX male, and the true hermaphrodite 294
19 Chromosome instability syndromes 300
20 Pregnancy loss and infertility 311
21 Parental age counseling and screening for fetal trisomy 325
22 Prenatal diagnostic procedures 336
23 Chromosome abnormalities detected at prenatal diagnosis 345
App. A. Ideograms of human chromosomes, and haploid autosomal lengths 375
App. B. Cytogenetic abbreviations and nomenclature 381
App. C. Determining 95 percent confidence limits, and the standard error 385
References 387
Index 465
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