Benjamin D. Solomon - Medical Genetics and Genomics: Questions for Board Review

Benjamin D. Solomon, MD

Pediatrician and Clinical Geneticist

This first edition first published 2023
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For my family, who loves genetics.

I hope that this book may be of use to many genetics and other medical trainees, including those in various genetics/genomicsbased residencies, fellowships, and genetic counseling training programs. I anticipate that others, such as medical students, clinicians, or laboratorians who may encounter patients with known or suspected genetic conditions, may also benefit. These questions can be used to study for board or other standardized examinations. Trainees may also want to use these questions to brush up before a genetics or related rotation. As genetics and genomics extends into more and more areas of medicine, this knowledge is increasingly relevant to just about every field of medicine, including cardiology, gastroenterology, immunology, neonatology, nephrology, neurology, oncology, ophthalmology, pathology, and rheumatology, to name just a handful.

I also want to briefly mention a few points about the questions assembled here.

First, based on polling colleagues and trainees, I decided to break up the questions into different thematic areas. Certain areas may be more relevant for certain users. For example, the section on physical examination may be particularly useful for clinical geneticist physicians. Many questions might be assigned to multiple areas, however that is, some questions span multiple themes.

Second, the questions cover multiple different areas of genetics. Depending on a persons level of training and experience, some questions may seem laughably easy, while others may be much trickier.

Third, I have tried to keep the questions short and straightforward so that learners would not get tripped up by semantics. This may mean that some questions may not perfectly mirror the style used in examinations, though examination style can differ and change with time and examination type. Although some examinations now shy away from all of the above and similar question formats (despite Mainos excellent song), I have retained a few of these types of questions here, as I feel that they can be useful when studying.

Fourth, related to the above point, I have kept the answers clear and succinct. Rather than exploring at length the reasons why all the choices given in the multiple choice questions are correct or incorrect, I provide a short explanation focusing on the correct answer. Based on my own experience, and from talking to colleagues, I have found that overly long discussions can be somewhat distracting, and bogs learners down when the idea is to expose them to information about many different concepts and conditions.

Finally, I have endeavored to make the information as futureproof as possible so that this book will not quickly become obsolete. Along these lines, the references include many traditional scientific and medical articles and textbooks, as well as online articles and other webbased resources. I anticipate that some of these latter references may change with time, and I encourage readers who want to delve deeper into a particular topic to check the latest literature.

For those looking for new questions after completing this book, you can follow me on Twitter (@BenjaminSolomo2). Best of luck, and thanks for your interest!

1. 1.1. Both a child and the childs mother are affected by the same genetic condition, but the child is more severely affected. Which of the following terms best describes this scenario?
   1. Allelic heterogeneity
   2. Incomplete penetrance
   3. Pleiotropy
   4. Variable expressivity
2. 1.2. About how many proteincoding genes are there in the human genome?
   1. 9000
   2. 19000
   3. 90000
   4. 900000
3. 1.3. Which of the following refers to the most common isochromosome in humans?