Catalogue


Chromosome abnormalities and genetic counseling /
R.J. McKinlay Gardner, Grant R. Sutherland.
edition
3rd ed.
imprint
New York : Oxford University Press, 2004.
description
xviii, 577 p., [4] p. of plates : ill. (some col.) ; 26 cm.
ISBN
0195149602 (alk. paper)
format(s)
Book
Holdings
More Details
added author
imprint
New York : Oxford University Press, 2004.
isbn
0195149602 (alk. paper)
catalogue key
5169765
 
Includes bibliographical references (p. 457-555) and index.
A Look Inside
About the Author
Author Affiliation
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
Reviews
Review Quotes
"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 ofchromosome 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
From reviews of previous editions:
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
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 Counselingis 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
"...this book has been written primarily for two groups of readers: thegenetic counsellor (both medical and nonmedical) and the cytogenetic laboratoryscientist. There are substantial sections of the book, however, which are ofrelevance to paediatricians...The authors are to be congratulated, not onlybecause their book is one of the best of its kind, written in a clear andbalanced manner and practically oriented !"--Journal of Paediatrics and ChildHealth
"...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 becongratulated, 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
"...this book has been written primarily for two groups of readers: thegentic counsellor (both medical and nonmedical) and the cytogenetic laboratoryscientist. There are substantial sections of the book, however, whic are ofrelevance to paediatricians...The authors are to be congratuated, not onlybecause their book is one of the best of its kind, written in a clear andbalanced manner and practically oriented, but also because of their antipodeanorigins!"--Journal of Paediatrics and Child Health
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Summaries
Long Description
Chromosomal abnormalities can cause disability in children, and reproductive difficulty in parents. Many parents and couples seek genetic counselling 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 counsellors, medical geneticists, paediatricians and obstetricians, infertility specialists, and laboratory cytogeneticists. This third edition has been thoroughly updated, and is richly illustrated and fully referenced. New chapters have been written on preimplantation diagnosis and recent advances in molecular cytogenetics are noted. The book will give counsellors 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.
Main Description
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 geneticcounselors, 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. Thebook 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.
Table of Contents
Basic Concepts
Elements of medical cytogeneticsp. 3
The origins and consequences of chromosome pathologyp. 21
Deriving and using a risk figurep. 50
Parent with a Chromosomal Abnormality
Autosomal reciprocal translocationsp. 59
Sex chromosome translocationsp. 98
Robertsonian translocationsp. 122
Centromere fissions, complementary isochromosomes, and telomeric fusionsp. 138
Inversionsp. 142
Insertionsp. 163
Autosomal ring chromosomesp. 178
Complex rearrangementsp. 186
Parental sex chromosome aneuploidyp. 195
Parental autosomal aneuploidyp. 210
The fragile X syndromesp. 218
Variant chromosomes and abnormalities of no phenotypic consequencep. 233
Normal Parents with a Chromosomally Abnormal Child
Down syndrome, other full aneuploidies, and polyploidyp. 249
Structural rearrangementsp. 264
The XY female, the XX male, and the true hermaphroditep. 294
Chromosome instability syndromesp. 301
Disorders Associated with Aberrant Genomic Imprinting
Uniparental disomy and disorders of imprintingp. 311
Reproductive Failure
Gametogenesis and conception, pregnancy loss, and infertilityp. 339
Prenatal Diagnosis
Parental age counseling and screening for fetal trisomyp. 363
Prenatal diagnostic proceduresp. 373
Preimplantation genetic diagnosisp. 381
Chromosome abnormalities detected at prenatal diagnosisp. 392
Noxious Agents
Gonadal cytogenetic damage from exposure to extrinsic agentsp. 435
Appendices
Ideograms of human chromosomes and haploid autosomal lengthsp. 447
Cytogenetic abbreviations and nomenclaturep. 452
Determining 95 percent confidence limits and the standard errorp. 456
Referencesp. 457
Indexp. 557
Table of Contents provided by Rittenhouse. All Rights Reserved.

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