Embodying current Policy of the American Academy of Pediatrics (AAP), this all-new resource provides practice-focused help for addressing virtually any genetics-related issue you're likely to confront. It's replete with expert insights, pediatric-specific solutions, and quick-access aids you won't find anywhere else.
Consult this one-stop problem-solver for:
- Must-know basics on genetic processes, inheritance patterns, and genetic testing
- Concise summaries of common genetic disorders
- Recognition, evaluation, diagnosis, and treatment how-to's
- Illuminating images of anomalies that may indicate genetic conditions
- Case-based examples of ethical issues
Here's the how, why, where, and when of pediatric genetic care:
- How to recognize diverse genetic disorders
- How to take a complete genetic history
- How to spot at-risk patients
- Why to create a pedigree
- When to consider a genetic evaluation
- How to conduct genetic screening and testing
- How to identify appropriate therapeutic approaches
- Where to find critical resources
- When to refer to a geneticist
- And much more!
- Cover
- Table of Contents
- Introduction
- Section 1: Overview of Genetics
- Chapter 1
Fundamentals of Genetics and Genomics
- Section 2: Implementing Geneticsin Pediatric Practice
- Chapter 3 Integrating Genetics in Primary Care
- Chapter 4 Genetics Services and Children With Special Health Care Needs
- Chapter 5 Family History and Pedigree Construction
- Chapter 6 Reasons to Consider a Genetics Evaluation
- Chapter 7 Recognizing Inborn Errors of Metabolism
- Chapter 8 Assessing Dysmorphology in Primary Care
- Chapter 9 Specific Genetic Conditions
- Section 3: Genetic Testing
- Chapter 10 Overview of Genetic Testing
- Chapter 11 Genetic Testing in Children: The Need for Caution
- Chapter 12 Population-Based Genetic Screening
- Section 4: Counseling, Community, and Ethics
- Chapter 13 Genetic Counseling Principles
- Chapter 14 Genetics and the Community: A Commentary
- Chapter 15 Genetics and Ethics in Pediatrics
- Section 5: Trends in Genetics
- Chapter 16 Treating Genetic Disorders
- Chapter 17 Newborn Screening in the United States
- Chapter 18 Preventable Disabilities: The Road Ahead
- Chapter 19 Personalized Medicine
- Chapter 20 Pharmacogenomics
- Chapter 21 Information Technology and Primary Care Genetics
- Glossary
- Appendix A Resources for the Pediatrician
- Appendix B Newborn Screening ACT Sheets
- Appendix C Initial Genetics Screening Evaluation
- Index
- Back Cover
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