Full Description
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Understand the clinical application of genetics in ob-gyn practice with this case-based text This up-to-date resource surveys the modern field of genetics and provides you with a practical understanding of its clinical uses.
Whether determining who is pre-disposed to disease, howa patient will respond to therapy, or what the optimal cancer treatment might be based on tumor profiles, this is the only guide to help efficiently interpret and utilize genetic data across the full spectrum of ob-gyn clinical scenarios.
Practical Genetics for the Ob-Gyn is organized around three central themes: basic genetic principles, clinical applications of ob-gyn practice, and common methods of genetic testing. Opening each chapter is a patient case study that establishes a realistic clinicalcontext for the subsequent genetics-based material addressed.
Contents
I. Basic Genetic Principles
1. Gene Structure and Function
2. Chromosome Structure and Function
3. Patterns of Inheritance
a. Mendelian inhereditance (Include clinical examples for each)
i. Autosomal dominant
ii. Autosomal recessive
iii. Co-dominant
iv. X-linked
b. Non-mendelian inhereditance (include clinical examples)
i. Hereditary unstable DNA
ii. Imprinting
iii. Uniparental disomy
iv. Mitochondrial inhereditance
v. Germ line mosaicism
c. Multifactorial and Polygenic Inhereditance
4. Chromosomal Abnormalities
a. Aneuploidy
b. Deletion, Duplication, and Inversions
II. Clinical Genetics in the Context of Obstetrics and Gynecology
5. Taking a family history
6. Principles of genetic counseling
7. Preconception counseling
8. Screening for genetic disorders in pregnancy
9. Methods of prenatal diagnosis
10. Common fetal malformations diagnosed by ultrasound
11. Gynecologic disorders with a genetic causation
12. Hereditary cancer syndromes
13. Disorders of sexual differentiation
14. Infertility and pregnancy loss
III. Methods of Genetic Testing
15. Traditional cytogenetic testing
16. Molecular cytogenetic testing
a. Fluorescent in-situ hybridization
b. Microarrays
17. Molecular diagnostic testing
a. Southern blot analysis
b. Polymerase chain reaction
c. DNA sequencing
d. New approaches to diagnostic testing
