Chromosome Abnormalities and Genetic Counseling

R.J. McKinlay Gardner, Grant R Sutherland, Lisa G. Shaffer (Autoren)

Buch | Hardcover

648 Seiten

2011 | 4th Revised edition
Oxford University Press (Verlag)
978-0-19-537533-6 (ISBN)

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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 an abnormality 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. Thoroughly updated 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 their particular chromosomal challenges and to determine what may be, for them, the best course of action.

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.

Contents ; BASIC CONCEPTS ; 1. Elements of medical cytogenetics ; 2. Chromosome analysis: classical and modern methodologies ; 3. The origins and consequences of chromosomal pathology ; 4. Deriving and using a risk figure ; PARENT WITH A CHROMOSOMAL ABNORMALITY ; 5. Autosomal reciprocal translocations ; 6. Sex chromosome translocations ; 7. Robertsonian translocations ; 8. Centromere Fissions, Complementary Isochromosomes, Telomeric Fusions, Balancing Supernumerary Chromosomes, and Jumping Translocations ; 9. Inversions ; 10. Insertions ; 11. Autosomal ring chromosomes ; 12. Complex rearrangements ; 13. Parental sex chromosome aneuploidy ; 14. Parental autosomal aneuploidy ; 15. The fragile X syndromes ; VARIANTS ; 16. Variant chromosomes and abnormalities of no phenotypic consequence ; 17. Copy number variants ; NORMAL PARENT WITH A CHROMOSOMALLY ABNORMAL CHILD ; 18. Down syndrome, other full aneuploidies, and polyploidy ; 19. Structural rearrangements ; 20. Chromosomal disorders of sex development ; 21. Chromosome instability syndromes ; DISORDERS ASSOCIATED WITH ABERRANT GENOMIC IMPRINTING ; 22. Uniparental disomy and disorders of imprinting ; REPRODUCTIVE FAILURE ; 23. Gametogenesis and conception, pregnancy loss, and infertility ; PRENATAL DIAGNOSIS ; 24. Parental age counseling and screening for fetal trisomy ; 25. Prenatal diagnostic procedures ; 26. Preimplantation genetic diagnosis ; 27. Chromosome abnormalities detected at prenatal diagnosis ; NOXIOUS AGENTS ; 28. Gonadal cytogenetic damage from exposure to extrinsic agents ; APPENDICES ; A. Ideograms of human chromosomes and haploid autosomal lengths ; B. Cytogenetic abbreviations and nomenclature ; C. Determining 95 per cent confidence limits and the standard error ; References ; Index

Reihe/Serie	Oxford Monographs on Medical Genetics
Zusatzinfo	157 illustrations
Verlagsort	Oxford
Sprache	englisch
Maße	190 x 262 mm
Gewicht	1751 g
Themenwelt	Medizin / Pharmazie ► Gesundheitsfachberufe
	Medizin / Pharmazie ► Medizinische Fachgebiete
	Studium ► 1. Studienabschnitt (Vorklinik) ► Histologie / Embryologie
	Studium ► 2. Studienabschnitt (Klinik) ► Humangenetik
ISBN-10	0-19-537533-5 / 0195375335
ISBN-13	978-0-19-537533-6 / 9780195375336
Zustand	Neuware