Gardner and Sutherland's Chromosome Abnormalities and Genetic Counseling

David J. Amor, RJ McKinlay Gardner (Autoren)

Buch | Hardcover

1024 Seiten

2026 | 6th Revised edition
Oxford University Press Inc (Verlag)
9780197747728 (ISBN)

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Chromosome abnormalities occur in about one in a hundred people, and present complex challenges for medical geneticists and genetic counselors. In addition to identifying chromosomal abnormalities, genetics professionals must explain the "unexplainable," helping families understand why chromosome disorders occur and how likely they are to occur again.

Chromosome Abnormalities and Genetic Counseling is the definitive guide to navigating chromosome disorders and clinical questions posed by the families they impact. It incorporates the latest advances in molecular technologies and prenatal diagnosis, while also revisiting the classical understanding of chromosomal pathology; the well-known trisomies, deletions, and duplication syndromes; and ways in which these may arise de novo or occur in the setting of a parental chromosome rearrangement. This new edition includes three entirely new chapters on copy number variants, chromosome abnormalities associated with selected phenotypes, and ethical and counseling issues.

Completely updated and still infused with the warmth and voice that have made it essential reading for professionals across medical genetics, the 6th edition of Chromosome Abnormalities and Genetic Counseling represents a leap forward in clinical understanding and communication. It is more than just a reference text; it is a holistic guide to thinking about these disorders, even as our technical understanding of them continues to evolve.

David J. Amor is a clinical geneticist based in Melbourne, Australia. He trained in pediatrics and genetics at the Royal Children's Hospital before completing a PhD in chromosome biology at the Murdoch Children's Research Institute. In 2016 he was appointed to the Lorenzo and Pamela Galli Chair in Developmental Medicine at the University of Melbourne, prior to which he was Director of Victorian Clinical Genetics Services. R.J. McKinlay Gardner has had a long career in Medical Genetics, practicing in New Zealand, Australia, the United Kingdom, and Canada. His main interests have been in chromosomal disorders, and neurogenetic disease. He continues, in retirement, to teach medical students at the University of Otago as an Adjunct Professor.

PART 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

PART TWO: PARENT OR CHILD WITH A CHROMOSOMAL ABNORMALITY
5. Autosomal Reciprocal Translocations
6. Sex Chromosome Translocations
7. Robertsonian Translocations
8. Insertions
9. Inversions
10. Complex Chromosomal Rearrangements
11. Autosomal Ring Chromosomes
12. Centromere Fissions, Complementary Isochromosomes, Telomeric Fusions, Balancing Supernumerary Chromosomes, Neocentromeres, Jumping Translocations, and Chromothripsis
13. Down Syndrome, Other Full Aneuploidies, Polyploidy, and the Influence of Parental Age
14. Autosomal Structural Rearrangements: Deletions and Duplications
15. Sex Chromosome Aneuploidy and Structural Rearrangement
16. Chromosome Instability Syndromes

PART THREE: CHROMOSOME VARIANTS
17. Normal Chromosomal Variation
18. Copy Number Variants

PART FOUR: DISORDERS ASSOCIATED WITH ABERRANT GENOMIC IMPRINTING
19. Uniparental Disomy and Disorders of Imprinting

PART FIVE: REPRODUCTIVE CYTOGENETICS
20. Reproductive Failure
21. Prenatal Testing Procedures
22. Chromosome Abnormalities Detected at Prenatal Diagnosis
23. Preimplantation Genetic Diagnosis

PART SIX: DISORDERS OF SEX DEVELOPMENT
24. Chromosomal Disorders of Sex Development

PART SEVEN: PHENOTYPES
25. Chromosomal Phenotypes

PART EIGHT: NOXIOUS AGENTS
26. Gonadal Cytogenetic Damage from Exposure to Extrinsic Agents

PART NINE: ETHICS
27. Ethical Issues

APPENDIXES
A. Ideograms of Human Chromosomes
B. Cytogenetic Nomenclature
C. Penetrance Data for Certain Copy Number Variants

Erscheinungsdatum	05.11.2025
Reihe/Serie	Oxford Monographs on Medical Genetics
Zusatzinfo	422 figures
Verlagsort	New York
Sprache	englisch
Maße	185 x 255 mm
Gewicht	2300 g
Themenwelt	Medizin / Pharmazie ► Medizinische Fachgebiete
	Studium ► 2. Studienabschnitt (Klinik) ► Humangenetik
	Studium ► 2. Studienabschnitt (Klinik) ► Pathologie
ISBN-13	9780197747728 / 9780197747728
Zustand	Neuware