《Gardner and Sutherland's Chromosome Abnormalities and Genetic Counseling》5th

《Gardner and Sutherland's Chromosome Abnormalities and Genetic Counseling》5th(2018) 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. 目录 Preface Acknowledgments 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 P ...