Gardner and Sutherland's chromosome abnormalities and genetic counseling / R. J. McKinlay Gardner, Adjunct Professor, Clinical Genetics Group, University of Otago, Dunedin, New Zealand, David J. Amor, Lorenzo and Pamela Galli Chair, University of Melbourne, Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Australia.

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

Includes bibliographical references and index.

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.