Pediatric genetics and inborn errors of metabolism : a practically painless review. Christine M. Houser

Often, information in review books can raise as many questions as it answers. This interferes with the study process, because the learner must either look up additional information or skip ahead without truly comprehending what he or she has read. As an alternative, __Pediatric Genetics and Inborn Errors of Metabolism: A Practically Painless Review__ presents bite-size chunks of information that can be read and processed rapidly, helping learners to stay active while studying and to pick up new information the first time they read it. This book's question and answer format allows for self-testing or study with a partner or a group. The format also facilitates dipping into the book during a few minutes of downtime at the hospital or office. __Pediatric Genetics and Inborn Errors of Metabolism: A Practically Painless Review__ is a quick and easy way to master these tricky topics and is suitable for those studying for the pediatric board exam, practicing physicians brushing up their skills and any busy clinician who wants to learn more about these topics while on the go. Dedication 6 Important Notice 8 Preface 10 Brief Guidance Regarding the Use of the Book 11 About the Author 14 Content Reviewers 16 Contents 18 Chapter 1: Genetic Concepts and Terminology 19 Chromosomal Conundrums: The Wacky World of Chromosomes That Want To Be Different 19 The basics: What are chromosomes supposed to do? 19 How do we know what chromosomes a person has? 20 What are autosomes? 20 Who decided how the chromosomes should be numbered? 20 What is the correct way to write or describe a particular karyotype? 21 My mother told me to mind my p’s and q’s, but why do I keep seeing them in genetic analyses? 21 What does “chromosomal banding” mean? 21 In addition to the chromosome’s number, chromosomes are also referred to by their shape. They all look like X’s to me. What is that about? 21 Which phase of cell division gives the best visualization of chromosomes? 22 Which phase of cell division is most often used to visualize the chromosomes? 22 When would you want to examine both lymphocytes and skin fibroblasts for the patient’s karyotype? 22 If a cell is referred to as “aneuploid,” what does that mean? 22 What is a “euploid” cell? 23 What are the special words to indicate that a cell is euploid but has an unusual multiple of 23 chromosomes? 23 What effect does it have on humans if they are missing an autosomal chromosome? 23 What effect does it have on humans if they have extra autosomal chromosomes? 23 How do cells make errors and end up with the wrong number of chromosomes? 23 How common are chromosomal abnormalities in live-born babies? 24 How important are genetic disorders to the healthcare of children? 24 We’ve discussed extra chromosomes, missing chromosomes, and missing significant chunks of chromosomes (partial monosomy). There must be smaller errors in chromosomes that can also cause problems, aren’t there? 24 How is translocation different from recombination? 26 Are there different types of translocations? 26 Reciprocal translation doesn’t seem so bad, since the material is just relocated. Do people with reciprocal translocations usually have problems due to the translocation? 26 How about Robertsonian translocations? There must be problem with having only 45 autosomes, right? 27 Bacteria and mitochondria have their genetic material in rings. That can’t happen in people, can it? 27 Is having a ring chromosome a bad thing? 27 What is a “fragile site” on a chromosome? 28 Does “Fragile X” syndrome involve a “fragile site?” 28 What are trinucleotide repeat disorders? 28 What are some famous disorders that develop from allelic expansion of trinucleotide repeats? 29 What does “mosaicism” refer to? 29 How is “germ line mosaicism” different from regular (aka somatic) mosaicism? 29 If mosaicism is suspected, what study is required to confirm it? 29 Uniparental disomy and uniparental isodisomy: Help! What are these? 30 This shouldn’t be possible. How could it happen? 30 You explained how uniparental isodisomy can happen. What about uniparental heterodisomy? 30 What is imprinting? 30 Genetic Gems 31 What is X inactivation? (Discovered by Mary Lyon, hence the term “lyonization”) 32 Chapter 2: Selected Genetics Topics 33 Robertsonian Translocation and Other Travel Options for Your Genes: How Your Genes Can do a Little Sightseeing on the Genome 33 Balanced translocations 34 Ring chromosomes 34 Trisomy 21: Just the Facts, Please! 35 The majority of Trisomy 21 births are to mothers in what age group? 35 What prenatal screening pattern suggests a Trisomy 21 fetus? 35 What ultrasound findings suggest Trisomy 21? 35 Much has been made of translocation as a cause for Down syndrome. What’s up with that? 35 The breakdown of Down syndrome causes is: 36 Parents of Down syndrome infants due to translocation should have chromosomal evaluation. Why? 36 Chapter 3: General Genetics Question and Answer Items 37 Chapter 4: General Inborn Errors of Metabolism Question and Answer Items 107 Index 152 Often, Information In Review Books Can Raise As Many Questions As It Answers. This Interferes With The Study Process, Because The Learner Must Either Look Up Additional Information Or Skip Ahead Without Truly Comprehending What He Or She Has Read. As An Alternative, Pediatric Genetics And Inborn Errors Of Metabolism: A Practically Painless Review Presents Bite-size Chunks Of Information That Can Be Read And Processed Rapidly, Helping Learners To Stay Active While Studying And To Pick Up New Information The First Time They Read It. This Book's Question And Answer Format Allows For Self-testing Or Study With A Partner Or A Group. The Format Also Facilitates Dipping Into The Book During A Few Minutes Of Downtime At The Hospital Or Office. Pediatric Genetics And Inborn Errors Of Metabolism: A Practically Painless Review Is A Quick And Easy Way To Master These Tricky Topics And Is Suitable For Those Studying For The Pediatric Board Exam, Practicing Physicians Brushing Up Their Skills, And Any Busy Clinician Who Wants To Learn More About These Topics While On The Go. Genetic Concepts And Terminology -- Selected Genetics Topics -- General Genetics Question And Answer Items -- General Inborn Errors Of Metabolism Question And Answer Items. By Christine M. Houser. Mode Of Access: World Wide Web. Front Matter....Pages i-xvii Genetic Concepts and Terminology....Pages 1-14 Selected Genetics Topics....Pages 15-18 General Genetics Question and Answer Items....Pages 19-88 General Inborn Errors of Metabolism Question and Answer Items....Pages 89-133 Back Matter....Pages 135-139