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Chromosome Abnormalities and Genetic Counseling

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ISBN-10: 0195149602

ISBN-13: 9780195149609

Edition: 3rd 2003 (Revised)

Authors: R. J. M. Gardner, Grant R. Sutherland, R. J. McKinlay Gardner

List price: $79.99
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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.
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Book details

List price: $79.99
Edition: 3rd
Copyright year: 2003
Publisher: Oxford University Press, Incorporated
Publication date: 8/28/2003
Binding: Hardcover
Pages: 604
Size: 10.12" wide x 7.01" long x 1.42" tall
Weight: 3.190
Language: English

Basic Concepts
Elements of medical cytogenetics
The origins and consequences of chromosome pathology
Deriving and using a risk figure
Parent with a Chromosomal Abnormality
Autosomal reciprocal translocations
Sex chromosome translocations
Robertsonian translocations
Centromere fissions, complementary isochromosomes, and telomeric fusions
Inversions
Insertions
Autosomal ring chromosomes
Complex rearrangements
Parental sex chromosome aneuploidy
Parental autosomal aneuploidy
The fragile X syndromes
Variant chromosomes and abnormalities of no phenotypic consequence
Normal Parents with a Chromosomally Abnormal Child
Down syndrome, other full aneuploidies, and polyploidy
Structural rearrangements
The XY female, the XX male, and the true hermaphrodite
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 cytogenetic damage from exposure to extrinsic agents
Appendices
Ideograms of human chromosomes and haploid autosomal lengths
Cytogenetic abbreviations and nomenclature
Determining 95 percent confidence limits and the standard error
References
Index