2012, English, Book, Illustrated edition: Chromosome abnormalities and genetic counseling / R.J. McKinlay Gardner, Grant R. Sutherland, Lisa G. Shaffer. Gardner, R. J. M.., (author.)

User activity

Share to:
Chromosome abnormalities and genetic counseling / R.J. McKinlay Gardner, Grant R. Sutherland
 
Bookmark: https://trove.nla.gov.au/version/51609383
Edition
  • Fourth edition.
  • 4th ed.
Physical Description
  • 1 online resource (xiv, 634 pages) : illustrations.
  • xiv, 634 p. : ill. ; 27 cm.
Published
  • Oxford ; New York : Oxford University Press, ©2012.
Language
  • English

Edition details

Title
  • Chromosome abnormalities and genetic counseling /​ R.J. McKinlay Gardner, Grant R. Sutherland, Lisa G. Shaffer.
Also Titled
  • ProQuest Ebook Central.
Author
  • Gardner, R. J. M.., (author.)
Other Authors
  • Sutherland, Grant R, (author.)
  • Shaffer, Lisa G., (author.)
  • ProQuest (Firm)
Edition
  • Fourth edition.
  • 4th ed.
Published
  • Oxford ; New York : Oxford University Press, ©2012.
Copyright
  • ©2012.
Content Types
  • text
Carrier Types
  • volume
  • online resource
Physical Description
  • 1 online resource (xiv, 634 pages) : illustrations.
  • xiv, 634 p. : ill. ; 27 cm.
Series
Subjects
Target Audience
  • Specialized
Summary
  • "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"--Publisher's summary.
  • 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 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.
Contents
  • 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.
  • Machine generated contents note: pt. ONE BASIC CONCEPTS
  • 1.Elements of Medical Cytogenetics
  • 2.Chromosome Analysis
  • 3.The Origins and Consequences of Chromosome Pathology
  • 4.Deriving and Using a Risk Figure
  • pt. TWO 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
  • pt. THREE VARIANTS
  • 16.Variant Chromosomes and Abnormalities of No Phenotypic Consequence
  • 17.Copy Number Changes
  • pt. FOUR NORMAL PARENTS WITH A CHROMOSOMALLY ABNORMAL CHILD
  • 18.Down Syndrome, Other Full Aneuploidies, and Polyploidy
  • 19.Structural Rearrangements
  • Contents note continued: 20.Chromosomal Disorders of Sex Development
  • 21.Chromosome Instability Syndromes
  • pt. FIVE DISORDERS ASSOCIATED WITH ABERRANT GENOMIC IMPRINTING
  • 22.Uniparental Disomy and Disorders of Imprinting
  • pt. SIX REPRODUCTIVE FAILURE
  • 23.Gametogenesis and Conception, Pregnancy Loss and Infertility
  • pt. SEVEN 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
  • pt. EIGHT NOXIOUS AGENTS
  • 28.Gonadal Cytogenetic Damage from Exposure to Extrinsic Agents
  • APPENDIXES
  • A.Ideograms of Human Chromosomes, and Haploid Autosomal Lengths
  • B.Cytogenetic Abbreviations and Nomenclature
  • C.Determining 95 Percent Confidence Limits, and the Standard Error.
Notes
  • ProQuest Ebook Central Purchased .
  • Also available in print.
  • Electronic reproduction. Ann Arbor, MI : ProQuest, 2015. Available via World Wide Web. Access may be limited to ProQuest affiliated libraries.
  • Formerly CIP.
  • Includes bibliographical references (p. 511-618) and index.
Other Form
  • Print version Gardner, R.J.M. Chromosome abnormalities and genetic counseling. 4th ed. Oxford ; New York : Oxford University Press, ©2012 9780195375336
Language
  • English
ISBN
  • 9780199749157
  • 0199749159
  • 1283427060
  • 9781283427067
  • 9780195375336 (alk. paper)
  • 0195375335 (alk. paper)
Dewey Number
  • 616.042
Standard Number
  • 99970753205
Libraries Australia ID
Contributed by
Libraries Australia

Get this edition

Freely available

With access conditions

None of your libraries hold this item.

These 18 locations in All:

Library Access Call number(s) Formats held Language
Austin Health. Austin Health Library. Not open to the public 616.042 GAR 2012 Book; Illustrated English
Charles Sturt University. Wagga Wagga Campus Library. Open to the public 990021822000402357; 616.042 GARD Book; Illustrated English
Curtin University. Curtin University Library. Open to the public 9938453521001951; 616.052 GAR; ROB; R6 Book; Illustrated English
Deakin University. Deakin University Library. Open to the public xx25864750; Held Book; Illustrated English
Edith Cowan University. Edith Cowan University Library. Open to the public Book; Illustrated English
Gold Coast Health Library Service. Not open to the public 991197484902062; 616.042 GAR 2012 Book; Illustrated English
Illawarra Shoalhaven Local Health District. Wollongong Hospital Medical/Health Sciences Library. May not be open to the public WBC211770 Book; Illustrated English
La Trobe University. La Trobe University Library. Borchardt Library, Melbourne (Bundoora) Campus. Open to the public 99502984902146; Online: Not available for loan Book; Illustrated English
Monash Health. Not open to the public Held. Check Holdings: https://monash.on.worldcat.org Book; Illustrated English
National Library of Australia. Open to the public 5754922; Nq 2011-4461 Book; Illustrated English
Northern Sydney Local Health Districts. Douglas Piper Library. Not open to the public Book; Illustrated English
Queensland University of Technology. Gardens Point Campus Library. Open to the public 991006119459704001; 616.042 125 /4 Book; Illustrated English
SAE Creative Media - Australia. May not be open to the public Held. Not for ILL. Book; Illustrated English
SA Health Library Service. Not open to the public Held. Check Holdings: https://salus.worldcat.org Book; Illustrated English
The University of Melbourne. The University of Melbourne Library. Open to the public .b50859547; held Book; Illustrated English
The University of Queensland. University of Queensland Library. Open to the public 991002606949703131; Online: Not available for loan, 991002630979703131; RB155.7 .G37 2012 Book; Illustrated English
University of Notre Dame Australia. Benedict XVI Medical Library. May not be open to the public 582949; QZ 50 GAR 2012 Book; Illustrated English
Western Sydney University. Campbelltown Campus Library. Open to the public 9918469900001571; HELD Book; Illustrated English
Show 0 more libraries...

This single location in Australian Capital Territory:

Library Access Call number(s) Formats held Language
National Library of Australia. Open to the public 5754922; Nq 2011-4461 Book; Illustrated English
Show 0 more libraries...

These 6 locations in New South Wales:

Library Access Call number(s) Formats held Language
Charles Sturt University. Wagga Wagga Campus Library. Open to the public 990021822000402357; 616.042 GARD Book; Illustrated English
Illawarra Shoalhaven Local Health District. Wollongong Hospital Medical/Health Sciences Library. May not be open to the public WBC211770 Book; Illustrated English
Northern Sydney Local Health Districts. Douglas Piper Library. Not open to the public Book; Illustrated English
SAE Creative Media - Australia. May not be open to the public Held. Not for ILL. Book; Illustrated English
University of Notre Dame Australia. Benedict XVI Medical Library. May not be open to the public 582949; QZ 50 GAR 2012 Book; Illustrated English
Western Sydney University. Campbelltown Campus Library. Open to the public 9918469900001571; HELD Book; Illustrated English
Show 0 more libraries...
None of your libraries hold this item.

These 3 locations in Queensland:

Library Access Call number(s) Formats held Language
Gold Coast Health Library Service. Not open to the public 991197484902062; 616.042 GAR 2012 Book; Illustrated English
Queensland University of Technology. Gardens Point Campus Library. Open to the public 991006119459704001; 616.042 125 /4 Book; Illustrated English
The University of Queensland. University of Queensland Library. Open to the public 991002606949703131; Online: Not available for loan, 991002630979703131; RB155.7 .G37 2012 Book; Illustrated English
Show 0 more libraries...

This single location in South Australia:

Library Access Call number(s) Formats held Language
SA Health Library Service. Not open to the public Held. Check Holdings: https://salus.worldcat.org Book; Illustrated English
Show 0 more libraries...
None of your libraries hold this item.

These 5 locations in Victoria:

Library Access Call number(s) Formats held Language
Austin Health. Austin Health Library. Not open to the public 616.042 GAR 2012 Book; Illustrated English
Deakin University. Deakin University Library. Open to the public xx25864750; Held Book; Illustrated English
La Trobe University. La Trobe University Library. Borchardt Library, Melbourne (Bundoora) Campus. Open to the public 99502984902146; Online: Not available for loan Book; Illustrated English
Monash Health. Not open to the public Held. Check Holdings: https://monash.on.worldcat.org Book; Illustrated English
The University of Melbourne. The University of Melbourne Library. Open to the public .b50859547; held Book; Illustrated English
Show 0 more libraries...
None of your libraries hold this item.

Found at these bookshops

Searching - please wait...

You also may like to try some of these bookshops, which may or may not sell this item.

Other suppliers

User activity


e.g. test cricket, Perth (WA), "Parkes, Henry"

Separate different tags with a comma. To include a comma in your tag, surround the tag with double quotes.

Comments and reviews

What are comments? Add a comment

No user comments or reviews for this version

Add a comment