Gardner and Sutherland's chromosome abnormalities and genetic counseling / R.J. McKinlay Gardner, David J. Amor.

Format:

Book

Author/Creator:

Gardner, R. J. M., author.

Amor, David J., author.

Series:

Oxford monographs on medical genetics ; no. 70.

Oxford monographs on medical genetics ; no. 70

Standardized Title:

Chromosome abnormalities and genetic counseling

Language:

English

Subjects (All):

Genetic counseling.

Human chromosome abnormalities--Patients--Counseling of.

Human chromosome abnormalities.

Chromosome Aberrations.

Genetic Counseling.

Patients.

Medical Subjects:

Chromosome Aberrations.

Genetic Counseling.

Physical Description:

pages.

Edition:

Fifth edition.

Place of Publication:

Oxford ; New York : Oxford University Press, [2018]

Summary:

Chromosome Abnormalities and Genetic Counseling is the genetics professional's definitive guide to navigating both chromosome disorders and the clinical questions of the families they impact. Combining a primer on these disorders with guidance on their best clinical approaches, this classic text is more than just a reference; it is a guide to how to think about these disorders, even as our technical understanding of them continues to evolve. Completely updated and still infused with the warmth and voice that have made it essential reading for professionals across medical genetics, this new edition of Chromosome Abnormalities and Genetic Counseling represents a leap forward in clinical understanding and communication, It is, as ever, essential reading for the field. New To This Edition Thoroughly updated, building on the beloved four previous editions, Provides answers and guidance to practically every chromosomal question the counselor is likely to encounter in the clinic, Extensive listing of deletion and duplication syndromes, Addresses the challenging issue of copy number variants, Includes overview of the roles of new molecular methodologies in prenatal and preimplantation diagnosis Book jacket.

Contents:

Elements of medical cytogenetics

Chromosome analysis

The origins and consequences of chromosome pathology

Deriving and using a risk figure

Autosomal reciprocal translocations

Sex chromosome translocations

Robertsonian translocations

Insertions

Inversions

Complex chromosomal rearrangements

Autosomal ring chromosomes

Rare conditions : centromere fissions, complementary isochromosomes, telomeric fusions, balancing supernumerary chromosomes, neocentromeres, jumping translocations, and chromothripsis

Down syndrome, other full aneuploidies, polyploidy, and the influence of parental age

Autosomal structural rearrangements : deletions and duplications

Sex chromosome aneuploidy and structural rearrangement

Chromosome instability syndromes

Normal chromosomal variation

Uniparental disomy and disorders of imprinting

Reproductive failure

Prenatal testing procedures

Chromosome abnormalities detected at prenatal diagnosis

Preimplantation genetic diagnosis

Chromosomal disorders of sex development

Gonadal cytogenetic damage from exposure to extrinsic agents.

Notes:

Preceded by Chromosome abnormalities and genetic counseling / R.J. McKinlay Gardner, Grant R. Sutherland, Lisa G. Shaffer. c2012.

Includes bibliographical references and index.

ISBN:

9780199329007

0199329001

OCLC:

995010985