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

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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.

Review

“This unique book is a must-read, must-have book in genetic counseling and medical genetics. It is clear that this is an ongoing project as the knowledge on molecular cytogenetics evolves rapidly, necessitating future editions. The authors keep their goals and focus well delineated, which makes this book a wonderful tool.” — Doody’s

About the Author

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.

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

قیمت : 6000 تومان

لینک کوتاه : https://bookbaz.ir/?p=110760
نویسنده : R.J. McKinlay Gardner , David J. Amor
ناشر : Oxford University Press; 5 edition
سال انتشار : 2018
زبان کتاب : انگلیسی
نوع فایل : PDF
تعداد صفحات : 729
(ISBN) شابک : 0199329001
قیمت کتاب درآمازون : $96.34
حجم فایل : 46 MB

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۶۰۰۰ تـومان – خرید