Chromosome abnormalities and genetic counseling /
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| Author / Creator: | Gardner, R. J. M. |
|---|---|
| Edition: | 2nd ed. |
| Imprint: | New York : Oxford University Press, 1996. |
| Description: | xiii, 478 p. : ill. ; 25 cm. |
| Language: | English |
| Series: | Oxford monographs on medical genetics no. 29 |
| Subject: | |
| Format: | Print Book |
| URL for this record: | http://pi.lib.uchicago.edu/1001/cat/bib/2554381 |
Table of Contents:
- Basic Concepts
- 1.. Elements of medical cytogenetics
- 2.. The origins and consequences of chromosome pathology
- 3.. Deriving and using a risk figure
- Parent with a Chromosomal Abnormality
- 4.. Autosomal reciprocal translocations
- 5.. Sex chromosome translocations
- 6.. Robertsonian translocations
- 7.. Centromere fissions, complementary isochromosomes, and telomeric fusions
- 8.. Inversions
- 9.. Insertions
- 10.. Autosomal ring chromosomes
- 11.. Complex rearrangements
- 12.. Parental sex chromosome aneuploidy
- 13.. Parental autosomal aneuploidy
- 14.. The fragile X syndromes
- 15.. Variant chromosomes and abnormalities of no phenotypic consequence
- Normal Parents with a Chromosomally Abnormal Child
- 16.. Down syndrome, other full aneuploidies, and polyploidy
- 17.. Structural rearrangements
- 18.. The XY female, the XX male, and the true hermaphrodite
- 19.. Chromosome instability syndromes
- Disorders Associated with Aberrant Genomic Imprinting
- 20.. Uniparental disomy and disorders of imprinting
- Reproductive Failure
- 21.. Gametogenesis and conception, pregnancy loss, and infertility
- Prenatal Diagnosis
- 22.. Parental age counseling and screening for fetal trisomy
- 23.. Prenatal diagnostic procedures
- 24.. Preimplantation genetic diagnosis
- 25.. Chromosome abnormalities detected at prenatal diagnosis
- Noxious Agents
- 26.. 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 percent confidence limits and the standard error
- References
- Index
