Self-assessment Questions for Clinical Molecular Genetics

✍ Scribed by Haiying Meng

• Publisher: Academic Press
• Year: 2019
• Tongue: English
• Leaves: 807
• Category: Library

✦ Synopsis

Review Questions of Clinical Molecular Genetics presents a comprehensive study guide for the board and certificate exams presented by the American College of Medical Genetics and Genomics (ACMG) and the American Board of Medical Genetics and Genomics (ABMGG). It provides residents and fellows in genetics and genomics with over 1,000 concise questions, ranging from topics in cystic fibrosis, to genetic counseling, to trinucleotide repeat expansion disorders. It puts key points in the form of questions, thus challenging the reader to retain knowledge. As board and certificate exams require knowledge of new technologies and applications, this book helps users meet that challenge.

• Includes over 1,0000 multiple-choice, USMLE style questions to help readers prepare for specialty exams in Clinical Cytogenetics and Clinical Molecular Genetics
• Designed to assist clinical molecular genetic fellows, genetic counselors, medical genetic residents and fellows, and molecular pathologist residents in preparing for their certification exam
• Assists trainees on how to follow guidelines and put them in practice

✦ Table of Contents

Cover
Self-assessment Questions for Clinical Molecular Genetics
Copyright
Dedication
About the Author
Preface
Reference
Further Reading
Acknowledgments
1 General Molecular Genetic Knowledge
Questions
Answers
References
Further Reading
2 Regulations From Oversight Agencies
Laboratory Accreditation Bodies
Consumer Protection Agencies
Professional Licensing Organizations
Other Regulatory Bodies
Questions
Answers
References
Further Reading
3 Molecular Genetic Nomenclature
Questions
Answers
References
4 Disorders of Unstable Repeat Sequences
Questions
Answers
References
Further Reading
5 Cystic Fibrosis
Questions
Answers
References
Additional Resources
6 Nonneoplastic Hematological Disorders
Questions
Answers
References
7 Oncology—Constitutional
Proto-Oncogenes Versus Tumor Suppressor Genes
Hereditary Cancer Predisposition Syndrome and Knudson’s Two-Hit Hypothesis
Chromosome Breakage Syndromes
Founder Effect in Ashkenazi Jewish
Questions
Answers
References
8 Oncology—Acquired
Primary and Secondary Genetic Aberrations in Oncogenesis/Tumorigenesis/Carcinogenesis
Clonality, Clonal Expansion, and Clonal Evolution
Tumor Heterogeneity
Loss of Heterozygosity
Samples for Genetic Tests
Questions
Answers
References
9 Lysosomal Storage Disorders
Questions
Answers
References
Further Reading
10 Neuromuscular Disorders
Questions
Answers
References
Further Reading
11 Prenatal, Newborn Screen, and Metabolic Disorders
Questions
Answers
References
Further Reading
12 Other Common Genetic Syndromes
Questions
Answers
References
Further Reading
13 Pharmacogenetics
Questions
Answers
References
Further Reading
14 Genetic Counseling—Introduction
Questions
Answers
References
Further Reading
Index