Medical Genetics and Genomics Questions for Board Review

A comprehensive question-and-answer book for those preparing for board examinations on clinical genetics

Medical Genetics and Genomics: Questions for Board Review provides more than 350 high-yield multiple choice questions (MCQs) to help readers prepare for standardized examinations for accreditation and ongoing certification in the various fields of medical genetics and genomics, as well as other trainees and learners who want to understand more about the field. Written by a leading authority in clinical genetics with extensive teaching experience in academia, government, biotech, and in healthcare, this invaluable study aid covers essential terminology, clinical diagnosis and manifestations of specific conditions, laboratory and testing approaches, management of genetic conditions, and more.

The questions are organized into thematic areas to help readers focus on specific areas within the field of genetics and genomics. Each section of questions is followed by fully annotated answers with concise explanations and up-to-date references. Throughout the book, high-quality illustrations are presented to enhance understanding of all key concepts.

• Contains more than 350 multiple choice questions covering multiple areas of genetics
• Provides clear and concise answers with brief and focused explanations
• Helpful for preparation for American Board of Medical Genetics and Genomics (ABMGG) and American Board of Genetic Counseling (ABGC) board examinations, as well as for general study of medical genetics and genomics
• Includes full references to scientific and medical articles, traditional textbooks, online articles, and other internet resources

Medical Genetics and Genomics: Questions for Board Review is a must-have for clinical trainees, physicians, laboratory geneticists, genetic counselors, and allied health professionals working in medical genetics.

Benjamin D. Solomon, MD has worked in academia, government, healthcare, and biotech. He has had leadership roles at the National Human Genome Research Institute, the Inova Translational Medicine Institute, and at GeneDx, Inc. He is Editor-in-Chief for the American Journal of Medical Genetics.

Introduction vii

1 Basics and Terminology 1

2 Physical Examination 21

3 Clinical Diagnosis and Manifestations of Specific Conditions 49

4 Causes of Genetic Conditions and Laboratory and Testing Approaches 85

5 Management of Genetic Conditions and Therapeutics 129

6 Inheritance, Risk, and Related Calculations 143

Index 163

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