دانلود کتاب ناهنجاری های کروموزوم و مشاوره ژنتیکی گاردنر و ساترلند
Gardner and Sutherland’s Chromosome Abnormalities and Genetic Counseling, 5ed

Even as classic cytogenetics has given way to molecular karyotyping, and as new deletion and duplication syndromes are identified almost every day, the fundamental role of the genetics clinic remains mostly unchanged. Genetic counselors and medical geneticists explain the “unexplainable,” helping families understand why abnormalities occur and whether they’re likely to occur again.

Chromosome Abnormalities and Genetic Counseling is the genetics professional’s definitive guide to navigating both chromosome disorders and the clinical questions of the families they impact. Combining a primer on these disorders with the most current approach to their best clinical approaches, this classic text is more than just a reference; it is a guide to how to think about these disorders, even as our technical understanding of them continues to evolve.

Completely updated and still infused with the warmth and voice that have made it essential reading for professionals across medical genetics, this edition of Chromosome Abnormalities and Genetic Counseling represents a leap forward in clinical understanding and communication. It is, as ever, essential reading for the field.

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Contents

۱. Elements of Medical Cytogenetics
۲. Chromosome Analysis
۳. The Origins and Consequences of Chromosome Pathology
۴. Deriving and Using a Risk Figure
۵. Autosomal Reciprocal Translocations
۶. Sex Chromosome Translocations
۷. Robertsonian Translocations
۸. Insertions
۹. Inversions
۱۰. Complex Chromosomal Rearrangements
۱۱. Autosomal Ring Chromosomes
۱۲. Centromere Fissionsr Complementary Isochromosomesr Telomeric Fusions,. Balancing Supernumerary Chromosomesr Neocentromeresr Jumping Translocationsr and Chromothripsis
۱۳. Down Syndromer Other Full Aneuploidiesr Polyploidy,, and the Influence of Parental Age
۱۴. Autosomal Structural Rearrangements: Deletions and Duplications
۱۵. Sex Chromosome Aneuploidy and Structural Rearrangement
۱۶. Chromosome Instability Syndromes
۱۷. Normal Chromosomal Variation
۱۸. Uniparental Disomy and Disorders of Imprinting
۱۹. Reproductive Failure
۲۰. Prenatal Testing Procedures
۲۱. Chromosome Abnormalities Detected at Prenatal Diagnosis
۲۲. Preimplantation Genetic Diagnosis
۲۳. Chromosomal Disorders of Sex Development
۲۴. Gonadal Cytogenetic Damage from Exposure to Extrinsic Agents
A. Ideograms of Human Chromosomesr and Haploid Autosomal Lengths
B. Cytogenetic Abbreviations and Nomenclature
C. Determining 95 Percent Confidence Limitsr and the Standard Error