Pediatric Genetics Exam Solutions
Course Introduction
Pediatric Genetics explores the principles and practices related to the genetic basis of childhood diseases and developmental disorders. The course covers fundamental concepts in human genetics, including inheritance patterns, genetic mutations, chromosomal abnormalities, and the molecular mechanisms underlying pediatric genetic diseases. Students will examine approaches to genetic screening, diagnostics, counseling, and management of genetic conditions in children. Emphasis is placed on the ethical, psychosocial, and clinical implications of genetic testing, as well as recent advances in genomic medicine and their application in pediatric care.
Recommended Textbook
Emerys Elements of Medical Genetics 14th Edition by Peter Turnpenny
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24 Chapters
149 Verified Questions
149 Flashcards
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Page 2
Chapter 1: The History and Impact of Genetics in Medicine
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3 Verified Questions
3 Flashcards
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Sample Questions
Q1) Which of the following can be used to determine the potential genotypes of offspring from a simple Mendelian cross?
A) Punnett square
B) Hardy-Weinberg equilibrium
C) Bayesian analysis
D) Law of independent assortment
E) Rules of probability
Answer: A
Q2) Which of the following causes deviations from the law of independent assortment?
A) The genes of interest are on the same chromosome
B) The genes of interest are linked
C) Homologous recombination between genes
D) Nonhomologous recombination
E) Nondisjunction
Answer: B
Q3) Which of the following is generally true for genetic diseases?
A) The incidence is less than the prevalence
B) The incidence is greater than the prevalence
C) The incidence equals the prevalence
Answer: B
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Chapter 2: The Cellular and Molecular Basis of Inheritance
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16 Verified Questions
16 Flashcards
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Sample Questions
Q1) Which of the following is a property of the system of triplet codons for amino acids?
A) Multiple codons can specify the same amino acid
B) The codons specified by nuclear DNA are the same as those specified by mtDNA
C) There is one stop codon
D) Each amino acid is specified by one codon
E) Each codon pairs to a unique tRNA
Answer: A
Q2) Which of the following are sequences that closely resemble other genes but are not themselves functionally expressed?
A) Introns
B) Pseudogenes
C) Satellite DNA
D) Tandem repeats
E) Junk DNA
Answer: B
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Chapter 3: Chromosomes and Cell Division
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7 Verified Questions
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Sample Questions
Q1) Due to differences in male and female meiosis,advanced paternal age effect is more likely to be associated with what type of mutation?
A) Chromosome abnormalities
B) Translocations
C) De novo dominant mutations
D) Aneuploidies
E) Fragile sites
Answer: C
Q2) The significance of a Robertsonian translocation is which of the following?
A) The loss of the sequences in the p arms of the involved chromosomes
B) Inability of the involved chromosomes to recombine
C) The risk of an unbalanced chromosome complement in gametes
D) Loss of chromosomal material in somatic cells during mitosis
E) Robertsonian translocations are generally benign
Answer: C
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5
Chapter 4: Dna Technology and Applications
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Sample Questions
Q1) Why are dideoxynucleotides added to the reaction in the Sanger sequencing methodology?
A) They label the DNA strands
B) They cause termination of the replicating strand
C) They allow longer processivity of the DNA polymerase
D) They cement the newly synthesized strand to the template strand
E) There is a lower chance of mutation during the sequencing reaction
Q2) What is the advantage of using a VNTR over SNP as a genetic marker?
A) There are more VNTRs in the genome
B) VNTRs are less variable
C) There are generally more alleles for each VNTR than for each SNP
D) VNTRs are located within genes
E) VNTRs are more likely to be mutations rather than polymorphisms
Q3) Which type of marker is used for DNA fingerprinting?
A) SNP
B) Microsatellite
C) Indel
D) Minisatellite
E) Copy number variant
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Page 6
Chapter 5: Mapping and Identifying Genes for Monogenic Disorders
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Sample Questions
Q1) What supporting evidence can be used to decide whether variation in a gene is actually a mutation?
A) It is never found in people without the phenotype of interest
B) It must be in an exon
C) Additional variation is found in the same gene in other people with a similar phenotype
D) It is expressed only in a tissue relevant to the phenotype
E) All of the above
Q2) What is a contig?
A) A series of genetic markers across a genome
B) A series of markers across a chromosome
C) A series of clones with overlapping DNA that spans a particular genetic region
D) A series of clones from a variety of individuals that represent that same genetic region
E) A series of clones from a variety of organisms that represent syntenic regions
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Chapter 6: Developmental Genetics
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9 Verified Questions
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Sample Questions
Q1) How many Barr bodies does somebody with a 47,XXY karyotype have?
A) 0
B) 1
C) 2
D) 3
E) More information is needed
Q2) Proteins that contain a zinc finger motif share what function?
A) Kinase
B) Phosphatase
C) Protease
D) Transcription factor
E) Inducers of apoptosis
Q3) What is an additional concern with complete hydatidiform moles that is not associated with partial moles?
A) Risk of severe developmental issues in the fetus
B) Malignancy
C) Loss of fertility
D) Imprinting defects
E) Later endometriosis
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Page 8
Chapter 7: Patterns of Inheritance
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11 Verified Questions
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Sample Questions
Q1) Maternal uniparental disomy for chromosome 15 is associated with which phenotype?
A) Prader-Willi syndrome
B) Angelman syndrome
C) Beckwith-Wiedemann syndrome
D) Russell-Silver syndrome
E) Myotonic dystrophy
Q2) Which of the following terms is used to describe the fact that mutations in a single gene can have more than one phenotypic effect?
A) Pleiotropy
B) Variable expressivity
C) Variable penetrance
D) Heteroplasmy
E) Mosaicism
Q3) Which of the following traits may exhibit holandric inheritance?
A) Baldness
B) Defects in spermatogenesis
C) Webbed toes
D) Red-green color blindness
E) All of the above
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Chapter 8: Population and Mathematical Genetics
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13 Verified Questions
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Sample Questions
Q1) What has led to the rise in frequency of the alleles for the sickle cell trait?
A) Genetic drift
B) Population bottleneck
C) Heterozygote advantage
D) Negative selection
E) Assortative mating
Q2) The incidence of cystic fibrosis in the Caucasian population is approximately 1 in 4000-what is the carrier frequency?
A) 1/16
B) 1/32
C) 1/64
D) 1/128
E) 1/1000
Q3) How are the LOD scores from multiple affected families combined?
A) Added
B) Subtracted
C) Averaged
D) Multiplied
E) They cannot be combined
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Page 10
Chapter 9: Polygenic and Multifactorial Inheritance
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Sample Questions
Q1) What is population stratification?
A) Separation of a cohort into cases and controls
B) Separation of a cohort by ethnicity
C) A false positive association due to the presence of unrecognized subpopulations in a cohort
D) The use of subsets of a cohort in both family-based and case-control association studies
E) A false negative study due to heterogeneity in a cohort
Q2) One goal of the International HapMap project is to identify which of the following?
A) Large families for linkage analysis
B) The complete set of SNPs in the human population
C) A genome-wide set of tag SNPs
D) All possible haplotypes in the human population
E) The complete genome sequence in a set of individuals from various regions of the world
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Chapter 10: Hemoglobin and the Hemoglobinopathies
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5 Verified Questions
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Sample Questions
Q1) Which of the following statements is true regarding the a1 and a2 globin chains?
A) They are identical at the nucleotide and amino acid sequence level
B) They differ at the nucleotide level but are identical at the amino acid level
C) a1 pairs only with b1, and a2 pairs only with b2
D) a1 is expressed in the fetus, and a2 is expressed after birth
E) a2 is a pseudogene of a1
Q2) Which of the following statements is true of the sickle cell trait-associated form of hemoglobin,Hb S?
A) It is characterized by a relative deficiency of a chains versus b chains
B) It has increased oxygen binding affinity relative to Hb A
C) It is less soluble than Hb A
D) It is dominant to Hb A
E) Therapeutic approaches have been highly successful in alleviating phenotypes associated with Hb S
Q3) The HbA form of hemoglobin consists of which globin chains?
A) 1 a, 1 b
B) 2 a, 2 b
C) 2 a
D) 2 a, 2 g
E) 1 a, 1 g
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Chapter 11: Biochemical Genetics
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9 Verified Questions
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Sample Questions
Q1) What modification has increased the success of enzyme replacement therapy for Gaucher disease?
A) Using larger doses of enzyme
B) Targeting the enzyme to cross the blood-brain barrier
C) Modifying the enzyme so that it is targeted to macrophage lysosomes
D) Providing the enzyme in conjunction with a bone marrow transplant
E) Removal of the spleen before treatment
Q2) How does MCAD deficiency usually present?
A) In adulthood, with myopathy
B) In early childhood, after an illness that leads to fasting
C) In childhood, with progressive vision loss
D) In early adulthood, with a thrombotic event
E) Any of the above
Q3) What pattern of inheritance is most often associated with disorders of mitochondrial function?
A) Autosomal dominant
B) Autosomal recessive
C) Maternal inheritance
D) X-linked dominant
E) X-linked recessive
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Chapter 12: Pharmacogenetics
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4 Flashcards
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Sample Questions
Q1) What would you predict about the genes involved in a drug's metabolism if you see a discontinuous dose-response curve in a population?
A) One gene is mainly responsible for the metabolism
B) The number of genes involved in the metabolism is equal to the number of peaks in the response curve
C) There are multiple genes involved in the metabolism, but this would not tell you how many
D) There is a threshold for induction of the gene involved in the metabolism
E) A dose-response curve provides no information on the genetics of drug metabolism
Q2) For the most effective use of Herceptin in breast cancer treatment,molecular testing for which of the following proteins should be performed before the drug is prescribed?
A) BRCA1
B) BRCA2
C) HER2
D) EGFR
E) MTHFR
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Chapter 13: Immunogenetics
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3 Flashcards
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Sample Questions
Q1) For which of the following tissues is homograft rejection not an issue?
A) Bone marrow
B) Liver
C) Kidney
D) Heart
E) Cornea
Q2) Which of the following processes is involved in immunoglobulin gene rearrangement?
A) Meiotic recombination
B) Somatic recombination
C) Nonhomologous end joining
D) Gene synapsis
E) Diakinesis
Q3) Deficiency for which of the following causes severe combined immunodeficiency syndrome?
A) Rhesus factor
B) Adenosine deaminase
C) WAS
D) CD69
E) CYP21
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Chapter 14: Cancer Genetics
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8 Verified Questions
8 Flashcards
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Sample Questions
Q1) How is the translocation between chromosomes 8 and 14 thought to cause Burkitt lymphoma?
A) It puts a proto-oncogene downstream of a strong promoter
B) It fuses a proto-oncogene with another protein and alters its activity
C) It deletes its opposing tumor suppressor
D) It deletes a regulatory region for the gene
E) It removes its 3' UTR
Q2) How does the Philadelphia chromosome activate an oncogene?
A) It puts a proto-oncogene downstream of a strong promoter
B) It fuses a proto-oncogene with another protein and alters its activity
C) It deletes its opposing tumor suppressor
D) It deletes a regulatory region for the gene
E) It removes its 3' UTR
Q3) Which of the following epigenetic modifications is associated with cancer?
A) DNA hypermethylation
B) DNA hypomethylation
C) Histone hypoacetylation
D) All of the above
E) None of the above
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Page 16
Chapter 15: Genetic Factors in Common Diseases
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7 Verified Questions
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Sample Questions
Q1) Why is population genetic screening for hemochromatosis not recommended?
A) The low frequency of carriers
B) No treatment is available
C) High allelic heterogeneity
D) Because it manifests only late it life
E) Low penetrance of the mutations
Q2) What is the major locus contributing to type 1 diabetes?
A) HNF1A
B) CARD15
C) HLA
D) TCF7L2
E) APOE
Q3) The gene on chromosome 21 encoding which protein is thought to contribute to the increased risk of Alzheimer's disease in individuals with Down syndrome?
A) Presenilin 1
B) Presenilin 2
C) Amyloid precursor protein
D) Alpha-synuclein
E) Parkin
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Page 17
Chapter 16: Congenital Abnormalities and Dysmorphic Syndromes
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Sample Questions
Q1) A disruption is a type of variation that is characterized by
A) Destruction or interruption of intrinsically normal tissue
B) An underlying genetic mechanism
C) An abnormal developmental process
D) High recurrence risk
E) A cluster of defects
Q2) Which of the following is NOT associated with teratogenic effects?
A) Folic acid consumption
B) Hyperthermia
C) Toxoplasmosis infection
D) Radiation exposure
E) Alcohol consumption
Q3) Which of the following would be considered a deformation?
A) Diaphragmatic hernia
B) Cleft lip
C) Neural tube defect
D) Club foot
E) Epicanthic folds
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Chapter 17: Genetic Counseling
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Sample Questions
Q1) Which of the following should be a feature of genetic counseling sessions?
A) A follow-up letter should be given to the consultand to help with information recall
B) It should be nondirective
C) Risk figures should be conveyed in a manner that gives them context
D) Technical terms should be used sparingly and should be thoroughly defined
E) All of the above
Q2) If we assume that the average person carries one deleterious autosomal recessive mutation,what is the risk that the child of an uncle-niece mating will be homozygous for one of the mutations present in the parents of the child's father?
A) 1/64
B) 1/32
C) 1/16
D) 1/11
E) 1/8
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Chapter 18: Chromosome Disorders
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Sample Questions
Q1) What is the most common defect causing male pseudohermaphroditism?
A) Lack of testosterone production
B) Defective androgen receptors
C) Mosaicism for 45,X/46,XY
D) Inappropriate estrogen expression
E) Loss of Y chromosome pseudoautosomal region
Q2) Which of the following is the most common inherited cause of learning difficulties?
A) Fragile X syndrome
B) Down syndrome
C) Turner syndrome
D) Klinefelter syndrome
E) Williams syndrome
Q3) What determines whether a child with a chromosome 15q11-q13 deletion will have Angelman syndrome or Prader-Willi syndrome?
A) The size of the deletion
B) The location of the 3' border of the deletion
C) The location of the 5' border of the deletion
D) The parent of origin of the deletion
E) Variation in a gene on a different chromosome
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Chapter 19: Single-Gene Disorders
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Sample Questions
Q1) Café-au-lait spots are a feature of what phenotype?
A) Charcot-Marie-Tooth disease
B) Myotonic dystrophy
C) Neurofibromatosis
D) Huntington disease
E) Marfan syndrome
Q2) Neurofibromin downregulates the activity of which protein?
A) p53
B) RAS
C) RB
D) HNF1A
E) CAPN10
Q3) Which of the following is a feature of the inheritance pattern of Huntington's disease?
A) It is sex-limited
B) The phenotype is not seen until after 50 years of age
C) It exhibits anticipation
D) It is passed only through females
E) All of the above
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21
Chapter 20: Screening for Genetic Disease
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Sample Questions
Q1) Which of the following criteria should be met for a disorder to be included in a newborn screening program?
A) The disorder must be fairly common
B) The test for the disorder must have high sensitivity
C) The test for the disorder must have high specificity
D) There must be an intervention available for the disorder
E) All of the above
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Chapter 21: Prenatal Testing and Reproductive Genetics
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Sample Questions
Q1) There is evidence that children conceived as a result of artificial reproductive technologies are at greater risk of what type of disorder?
A) Aneuploidy
B) Single gene disorders
C) Imprinting disorders
D) Balanced translocations
E) Mitochondrial disorders
Q2) Which of the following is used as a prenatal screen for Down syndrome?
A) Ultrasonography for polydactyly
B) Ultrasonography for increased nuchal translucency
C) Increased maternal serum AFP
D) Ultrasonography for brain malformations
E) All of the above
Q3) Which of the following is a disadvantage of chorionic villus sampling compared to amniocentesis?
A) The need to culture cells before diagnostics can be performed
B) CVS is done later in pregnancy than amniocentesis
C) Higher rates of complication
D) Biochemical analyses cannot be performed on CVS samples
E) Fewer chromosomes can be analyzed specifically
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Chapter 22: Risk Calculation
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Sample Questions
Q1) How is a posterior probability calculated?
A) It equals the sum of all joint probabilities
B) It equals the prior probability minus the sum of all joint probabilities
C) It equals the probability of the event of interest divided by the sum of all joint probabilities
D) It equals the prior probability of the event of interest divided by the sum of all joint probabilities
E) It equals the product of the prior probability of the event of interest times the joint probabilities
Q2) A baby tests negative by newborn screening for cystic fibrosis mutations using a mutation panel that will detect 70% of mutations in this population.If there is a carrier frequency of 1/50 in this population,what is the probability that the baby is a mutation carrier?
A) 1/333
B) 1/164
C) 1/111
D) 1/71
E) 1/36
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24
Chapter 23: Treatment of Genetic Disease
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Sample Questions
Q1) According to our current understanding,what makes embryonic stem cells unique compared to other stem cells?
A) They can be engineered to express exogenous DNA
B) Larger DNA segments can be expressed in them
C) They are not rejected by the immune system
D) They can differentiate into any cell type
E) If injected into the bloodstream, they will home to the appropriate location in the body
Q2) Which of the following consequences was associated with use of retroviruses in gene therapy of SCID?
A) Short half-life for the vector
B) Dangerous immune response to the vector
C) Insertional mutagenesis
D) The protein product was not expressed in the appropriate location
E) Sufficient levels of the protein product were not achieved
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25
Chapter 24: Ethical and Legal Issues in Medical Genetics
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Sample Questions
Q1) Under what condition is it recommended that genetic testing of children be available?
A) Whenever it is requested
B) When the parents request it
C) When there is a medical benefit to the testing
D) When the parents want to know risks to future children
E) None of the above
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