Gardner and Sutherland's chromosome abnormalities and genetic counseling /
Saved in:
| Author / Creator: | Gardner, R. J. M., author. |
|---|---|
| Uniform title: | Chromosome abnormalities and genetic counseling |
| Edition: | Fifth edition. |
| Imprint: | Oxford ; New York : Oxford University Press, [2018] |
| Description: | 1 online resource (pages.) |
| Language: | English |
| Series: | Oxford monographs on medical genetics ; no. 70 Oxford monographs on medical genetics ; no. 70. |
| Subject: | |
| Format: | E-Resource Book |
| URL for this record: | http://pi.lib.uchicago.edu/1001/cat/bib/12717927 |
Table of Contents:
- Elements of medical cytogenetics
- Chromosome analysis
- The origins and consequences of chromosome pathology
- Deriving and using a risk figure
- Autosomal reciprocal translocations
- Sex chromosome translocations
- Robertsonian translocations
- Insertions
- Inversions
- Complex chromosomal rearrangements
- Autosomal ring chromosomes
- Rare conditions : centromere fissions, complementary isochromosomes, telomeric fusions, balancing supernumerary chromosomes, neocentromeres, jumping translocations, and chromothripsis
- Down syndrome, other full aneuploidies, polyploidy, and the influence of parental age
- Autosomal structural rearrangements : deletions and duplications
- Sex chromosome aneuploidy and structural rearrangement
- Chromosome instability syndromes
- Normal chromosomal variation
- Uniparental disomy and disorders of imprinting
- Reproductive failure
- Prenatal testing procedures
- Chromosome abnormalities detected at prenatal diagnosis
- Preimplantation genetic diagnosis
- Chromosomal disorders of sex development
- Gonadal cytogenetic damage from exposure to extrinsic agents.
