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.

This is an excellent book and a vital piece of work for clinical geneticists and counsellors.

• PrefaceAcknowledgmentsPART ONE:  BASIC CONCEPTS1.  Elements of Medical Cytogenetics2.  Chromosome Analysis3.  The Origins and Consequences of Chromosome Pathology4.  Deriving and Using a Risk FigurePART TWO:  PARENT WITH A CHROMOSOMAL ABNORMALITY5.  Autosomal Reciprocal Translocations6.  Sex Chromosome Translocations7.  Robertsonian Translocations8.  Insertions9.  Inversions10.  Complex Chromosomal Rearrangements11.  Autosomal Ring Chromosomes12. Rare Conditions: Centromere Fissions, Complementary Isochromosomes,   Telomeric Fusions, Balancing Supernumerary Chromosomes,  Neocentromeres, Jumping Translocations, and Chromothripsis13.  Down Syndrome, Other Full Aneuploidies, Polyploidy, and the Influence of Parental Age14.  Autosomal Structural Rearrangements: Deletions and Duplications15.  Sex Chromosome Aneuploidy and Structural Rearrangement16.  Chromosome Instability SyndromesPART THREE:  CHROMOSOME VARIANTS17.  Normal Chromosomal VariationPART FOUR:  DISORDERS ASSOCIATED WITH ABERRANT GENOMIC IMPRINTING18.  Uniparental Disomy and Disorders of ImprintingPART FIVE:  REPRODUCTIVE CTYOGENETICS19.  Reproductive Failure20.  Prenatal Testing Procedures21.  Chromosome Abnormalities Detected at Prenatal Diagnosis22.  Preimplantation Genetic DiagnosisPART SIX:  DISORDERS OF SEX DEVELOPMENT23.  Chromosomal Disorders of Sex DevelopmentPART SEVEN:  NOXIOUS AGENTS24.  Gonadal Cytogenetic Damage from Exposure to Extrinsic AgentsAPPENDICESA.  Ideograms of Human Chromosomes and Haploid Autosomal LengthsB.  Cytogenetic Abbreviations and NomenclatureC.  Determining 95 Percent Confidence Limits and the Standard ErrorReferencesIndex