Gardner and Sutherland's Chromosome Abnormalities and Genetic Counseling

R.J. McKinlay Gardner is an adjunct professor at the University of Otago and former consultant geneticist at Genetic Health Services New Zealand, Victorian Clinical Genetics Services, and Genetic Health Queensland. He lives in Dunedin, New Zealand.

David J. Amor is the Lorenzo and Pamela Galli Chair at the University of Melbourne and a consultant clinical geneticist and former Director of Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.

PrefaceAcknowledgments
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 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. Rare Conditions: 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

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

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

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

PART SEVEN:  NOXIOUS AGENTS
24.  Gonadal Cytogenetic Damage from Exposure to Extrinsic Agents

APPENDICES
A.  Ideograms of Human Chromosomes and Haploid Autosomal Lengths
B.  Cytogenetic Abbreviations and Nomenclature
C.  Determining 95 Percent Confidence Limits and the Standard Error

References
Index