Self-assessment Questions for Clinical Molecular Genetics

Description

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 GeneticsDesigned to assist clinical molecular genetic fellows, genetic counselors, medical genetic residents and fellows, and molecular pathologist residents in preparing for their certification examAssists trainees on how to follow guidelines and put them in practice 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