Chromosome Abnormalities and Genetic Counseling

Hardcover | October 19, 2011

byR.J.M Gardner, Grant R Sutherland, Lisa G. Shaffer

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Chromosome abnormalities have been known for over 50 years, though the methods of analysis have become increasing more sophisticated and precise. Surprisingly, the questions that parents and families raise in genetic counseling have changed little over that period. Questions like, "Why did anabnormality happen? Why did it cause the problems we see in our child? Would it happen again in a future child? How could we avoid it happening again?" are common concerns for families.This new edition of Chromosome Abnormalities and Genetic Counseling deals with these universal questions, and in the context of the recent developments in molecular cytogenetic analysis, but retaining always the major focus on the needs of the families in which these conditions occur. Thoroughlyupdated once again, this richly-illustrated text combines basic concepts of chromosomal analysis with practical applications of recent advances in molecular cytogentics. The book will give counselors the information that will enable them to help concerned parents accommodate and adapt to theirparticular chromosomal challenges and to determine what may be, for them, the best course of action.

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Chromosome abnormalities have been known for over 50 years, though the methods of analysis have become increasing more sophisticated and precise. Surprisingly, the questions that parents and families raise in genetic counseling have changed little over that period. Questions like, "Why did anabnormality happen? Why did it cause the pro...

Lisa G. Shaffer is President of Signature Genomic Laboratories. R.J. McKinlay Gardner is a Consultant Medical Geneticist at Northern Regional Genetic Service at Auckland City Hospital. Grant R. Sutherland is an Emeritus Geneticist at Women's and Children's Hospital in Adelaide, Australia.
Format:HardcoverDimensions:648 pages, 0.12 × 0.12 × 0.12 inPublished:October 19, 2011Publisher:Oxford University PressLanguage:English

The following ISBNs are associated with this title:

ISBN - 10:0195375335

ISBN - 13:9780195375336

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Table of Contents

BASIC CONCEPTS1. Elements of medical cytogenetics2. Chromosome analysis: classical and modern methodologies3. The origins and consequences of chromosomal pathology4. Deriving and using a risk figurePARENT WITH A CHROMOSOMAL ABNORMALITY5. Autosomal reciprocal translocations6. Sex chromosome translocations7. Robertsonian translocations8. Centromere Fissions, Complementary Isochromosomes, Telomeric Fusions, Balancing Supernumerary Chromosomes, and Jumping Translocations9. Inversions10. Insertions11. Autosomal ring chromosomes12. Complex rearrangements13. Parental sex chromosome aneuploidy14. Parental autosomal aneuploidy15. The fragile X syndromesVARIANTS16. Variant chromosomes and abnormalities of no phenotypic consequence17. Copy number variantsNORMAL PARENT WITH A CHROMOSOMALLY ABNORMAL CHILD18. Down syndrome, other full aneuploidies, and polyploidy19. Structural rearrangements20. Chromosomal disorders of sex development21. Chromosome instability syndromesDISORDERS ASSOCIATED WITH ABERRANT GENOMIC IMPRINTING22. Uniparental disomy and disorders of imprinting REPRODUCTIVE FAILURE23. Gametogenesis and conception, pregnancy loss, and infertilityPRENATAL DIAGNOSIS24. Parental age counseling and screening for fetal trisomy25. Prenatal diagnostic procedures26. Preimplantation genetic diagnosis27. Chromosome abnormalities detected at prenatal diagnosisNOXIOUS AGENTS28. Gonadal cytogenetic damage from exposure to extrinsic agents