Chromosome Abnormalities and Genetic Counseling-4판

Chromosome Abnormalities & Genetic Counseling,4/e


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.

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