Epigenetics and Genetics

A __________ gene is one that produces an effect only in the homozygous state. recessive hemizygous sex-linked dominant

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A child is diagnosed with cystic fibrosis. History reveals that the child's parents are siblings. Cystic fibrosis was most likely the result of: consanguinity. genomic imprinting. obligate carriers. X-inactivation.

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A newborn child is noted to have malodorous, musty urine and later shows signs of developmental delay and seizures. Which disorder presents with these characteristics? Phenylketonuria Muscular Dystrophy Sickle Cell Marfan Syndrome

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A nurse is reviewing the pedigree chart. When checking for a proband, what is the nurse looking for? The person who is first diagnosed with a genetic disease. The codominance. The phenotype of genetic material. The individual who has a disease gene but is phenotypically normal.

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A patient wants to know the risk factors for Down syndrome. What is the nurse's best response? Pregnancy in women over age 35 Fetal exposure to mutagens in the uterus Family history of Down syndrome Increased paternal age

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A patient, age 9, is admitted to a pediatric unit with Duchenne muscular dystrophy. When planning care, the nurse recalls the patient inherited this condition through a trait that is: X-linked recessive. X-limited. X-influenced. X-linked dominant.

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A woman of advanced maternal age undergoes genetic testing during her pregnancy. If the fetus has Down syndrome, how many chromosomes would the test identify? 47 47 45 23

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Epigenetics is the field of science that evaluates: mechanism of activation and deactivation of genes. changes in underlying DNA sequence. single nucleotide polymorphism development. copy number variant development.

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The nurse practitioner observes poor muscle tone, short stature, and intellectual disability in the medical history of a 32-year-old patient with leukemia. Which would the health care provider consider as the cause of the findings? Trisomy of chromosome 21 Trisomy of chromosome 16 Aneuploidy of the X chromosome Aneuploidy of the Y chromosome

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What genetic disorder is the result if an individual possesses an XXY chromosome configuration? Klinefelter Fragile X Turner Down

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What is a possible reason for increased risk for chromosomal abnormalities with older maternal age? The older ova are more likely to have errors during meiosis Ova are continuously produced thereby increasing the chance of creating defective ova. Ova meiosis is complete by the time a girl is born thereby making them less likely to divide properly. Older ova are more likely to have p53 gene mutations.

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What is the probability of having a child with cystic fibrosis if one parent has the disease and the other is a carrier? 50% 100% 75% 25%

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Which epigenetic modification is the common site for DNA methylation that renders the gene silent during the transcriptional process? Cytosines that are followed by a guanine base Cytosines that are followed by a thymine base Cytosines that are followed by a uracil base Cytosines that are followed by an adenine base

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Which individual would be identified as having a disease resulting from an autosomal recessive genetic transmission? A female with cystic fibrosis A male with Huntington disease A female with Turner syndrome A male with Klinefelter syndrome

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Which individual would be identified as having an X-linked recessive disease? A child with Duchenne muscular dystrophy A man with Huntington disease A woman with breast cancer An infant with cri du chat syndrome

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Which of the following mutations have the most significant effect on protein synthesis? Frameshift mutations Base pair substitutions Silent mutations Intron mutations

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Which statement indicates an accurate understanding of the inheritance characteristics of an individual's autosomal recessive disease? Select all that apply. "Males and females are affected equally." "The disease may be seen in siblings of affected individuals." "The child expressing the genetic phenotype is heterozygous." "Approximately 50% of children express the genetic phenotype." "Parents consistently display the genetic phenotype."

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Which statement(s) indicate a need for correction regarding the concept of epigenetics? Select all that apply. "The diverse physical features associated with genetic modifications include changes in the nucleotide sequence." "Epigenetic modification is a change in the gene expression that is a result of mutations in the DNA." "Epigenetic modification is a contributor for the human diversity of physical features." "Gene regulation by epigenetic processes can occur at the level of either transcription or translation." "Epigenetic mechanisms include chemical modifications to DNA and associated histones."

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Which factors may lead to epigenetic modification? Select all that apply. DNA methylation Gene imprinting Histone modification Warm temperatures during conception

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Screening tools that are epigenetically based have shown promise in diagnosing which types of cancer? (Select all that apply.) Breast Bladder Colon Skin Prostate

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A 70-year-old man and his 45-year-old wife have a child who is found to have a genetic disorder. What signs and symptoms are likely to be seen in this child born to parents of advanced maternal and paternal age? Leukemia Congenital Heart Defects Gowers Sign Visual Problems Hearing Disorders

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Which probabilities are associated with a man with hemophilia A having a child with a woman who does not have the disease and who is not a carrier? None of his sons will be affected. None of his daughters will be carriers. All of his daughters will be carriers. All of his sons will be affected.

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A child is born with a genetic disorder and is found to have 46 chromosomes. Which type of disorder could have caused the genetic disorder? Select all that apply Autosomal Recessive Disorder Chromosomal Disorder Single Gene Disorder Polygenic Disorder Autosomal Dominant Disorder

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When the nurse is teaching the staff about X-linked recessive disorders, which information should the nurse include? (Select all that apply.) The trait is never transmitted from father to son. The trait is seen much more often in females than in males. The gene can be transmitted through a series of carrier females. The trait never skips generations. The gene is passed from an affected father to all his daughters.

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Which disorders have a known chromosomal inheritance pattern? Turner Syndrome Marfan Syndrome Edwards Syndrome Fragile X Syndrome Down Syndrome

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Which manifestations can be seen in deletion of a region of the long arm of chromosome 15 that is maternally derived? Select all that apply Severe Intellectual Impairment Hypotonia Ataxia Hypogonadism Seizures

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Research has provided support for the theory that epigenetic modifications can result from deficient in utero nutrition causing which chronic disease? (Select all that apply.) Cardiovascular disease Asthma Crohn's disease Obesity Diabetes

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A DNA strand has a region with the sequence ATCGGAT. Which of the following would be a complementary strand? UAGCCUAG TAGCCTAG TUGCCTUG CGATACGT

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A couple has three offspring: one child has an autosomal dominant disease trait and the other two children do not have the trait. The father is affected by the autosomal dominant disease, but the mother does not have the disease gene. What is the recurrence risk of this autosomal dominant disease for their next child? 25% 50% 33% Unable to determine

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A newborn is assessed at birth and found to have macroglossia. Which epigenetic disorder could be responsible for this finding? Prader-Willi Syndrome Beckwith-Wiedemann Syndrome Russell-Silver Syndrome Angelman's Syndrome

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A normal male and a female carrier for red-green color blindness want to have children. Given that red-green color blindness is an X-linked recessive trait, what information should be given to the parents? 25% males affected Males mostly affected; females mostly carriers Females mostly affected; no males affected 50% females affected

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A patient will be receiving stem cells obtained from a donor's blood (allogenic transplant) for leukemia (abnormal white blood cells). These stem cells are categorized as multipotent because they can make: differentiated cells that can become any cell. all types of blood cells. only white blood cells. multiple types of cells in the body.

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An 18-year-old presents with a history of hip pain and is found to have avascular necrosis. Which genetic disorder may be present? Tay-Sachs Disease Sickle Cell Disease Edwards Syndrome Cystic Fibrosis

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An aide asks the nurse why people who have neurofibromatosis will show varying degrees of the disease. Which genetic principle should the nurse explain to the aide? Penetrance Expressivity Dominance Recessiveness

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The gradual increase in height among the human population over the past 100 years is an example of: a polygenic trait. a multifactorial trait. crossing over. recombination.

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What comorbid condition does an individual diagnosed with Beckwith-Wiedemann syndrome have an increased risk of developing? Food allergies Cancer Diabetes Depression

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What is the most common cause of Down syndrome? Maternal translocations Maternal nondisjunction Paternal nondisjunction Paternal translocations

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What is the role of inactive MLH1 in the development of some forms of inherited colon cancer? Abnormalities of chromosome 11p15.5 that lead to downregulation of IGF2. DNA damage is left unrepaired. Deletion of a nucleotide repeat in the DUX4 gene. Expansion in the number of cytosine-guanine (CG) dinucleotide.

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What type of mutation does not change the amino acid sequence and thus has no observable consequence? Frameshift Silent Spontaneous Missense

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Which disease is found to have an abnormal methylation of tumor-suppressor genes as part of the progression? Fragile X Syndrome Barrett's Esophagus Depression Fetal Alcohol Syndrome

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Which gene is responsible for the increase in tumors seen in Beckwith-Wiedemann syndrome? HNPCC IGF2 MLH1 RB1

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Which genetic abnormality may lead to Angelman syndrome? Presence of active IGF2 gene in a double dose Deletion of part of chromosome 15 inherited from mother Imprinting abnormalities of chromosome 11 Deletion of part of chromosome 15 inherited from father

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Which information from staff indicates successful teaching by the nurse practitioner about sickle cell disease? Sickle cell disease is most common in people of European descent Sickle cell disease means a person has abnormal hemoglobin S (HB S) Sickle cell disease is solely the heterozygous form Sickle cell disease directly affects leukocytes.

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Which statement regarding a gene is correct? "Genes are one of the 23 paired strands of genetic material in a nucleus." "Genes are composed of sequences of deoxyribonucleic acid." "Genes are chains of ribonucleic acid." "Genes are sperm and egg cells."

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Which chromosomal abnormalities result in a form of Down syndrome? Select all that apply Monosomy X Translocation Trisomy 21 Trisomy 18 Polysomy X

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Which characteristics can be seen when there is a deletion of a region of the long arm of chromosome 15 that is paternally derived? Select all that apply Seizures Hypotonia Obesity Hypogonadism Short Stature Severe Intellectual Impairment

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Which processes are known as mechanisms of epigenetics? Select all that apply Chromosomal Deletion Hydroxymethylation RNA-Based Mechanisms DNA Methylation Chemical Modifications that Alter the Charges of the Histone Proteins

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A newlywed couple has an ultrasound that shows that they are having a boy. Which genetic disorders are more likely in their child? Huntington Disease Hemophilia A Fragile X Syndrome PKU Duchenne Muscular Dystrophy

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Which genetic disorders can be understood using Punnett squares? Polygenic Disorder Single Gene Disorder Chromosomal Disorder Autosomal Dominant Disorder Autosomal Recessive Disorder

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Which structures are responsible for making DNA more compact?Select all that apply MicroRNAs Protamines Oncomirs Housekeeping Genes Histones

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Which structures are responsible for making DNA more compact?Select all that apply Oncomirs Protamines MicroRNAs Histones Housekeeping Genes

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A child is born with a genetic disorder and is found to have 46 chromosomes. Which type of disorder could have caused the genetic disorder? Select all that apply Chromosomal Disorder Polygenic Disorder Autosomal Dominant Disorder Autosomal Recessive Disorder Single Gene Disorder

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. __________ syndrome occurs in males when there is an extra X chromosome. Turner Triple X Klinefelter XYY

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A newly discovered disease features DNA methylation at cytosines outside of the CpG context. Which cells were most likely involved in this disease process? Adult Sex Cells Adult Somatic Cells Embryonic Stem Cells Embryonic Sex Cells

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A nurse recalls the basic components of DNA are: codons, oxygen, and cytosine. pentose sugars and four phosphate bases. a phosphate molecule, deoxyribose, and four nitrogenous bases. adenine, guanine, and purine.

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An individual is found to have growth retardation, proportionate short stature, leg length discrepancy, and a triangular face. Which genetic condition would be associated with these characterizations? Prader-Willi syndrome Angelman syndrome Russell-Silver syndrome Beckwith-Wiedemann syndrome

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During which stage of human development does the role of epigenetics have the greatest impact on the development of epigenetic abnormalities? Puberty Infancy In utero Middle age

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Housekeeping genes are vital to the function and maintenance of all the body's cells. What characteristic is associated with these genes? They lack encoding histones. Ribosomal RNA genes are absent. They are transcriptionally active. Epigenetic silencing has occurred.

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Mutations in the encoding of histone-modifying proteins have been shown to influence the development of what congenial condition? Cleft palate Acephalous Heart disease Webbed digits

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Research has demonstrated that neural stem cells have an impaired ability to differentiate into functional neurons when subjected to: poor oxygenation. insufficient nutrients. ethanol. marijuana.

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The condition in which an extra portion of a chromosome is present in each cell is called: inversion. reciprocal translocation. partial trisomy. Down syndrome

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What information should parents be given about the consequences of phenylketonuria (PKU)? High dietary tyramine may help induce enzyme production. PKU is commonly associated with other congenital anomalies. Failure to treat properly results in progressive mental disability. Mental disability is inevitable.

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When considering abnormal epigenetic modifications, what factor is currently being viewed as strongly associated with the development of some cancers? Family genetics Lifestyle choices Environmental stressors Emotional coping skills

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When considering abnormal epigenetic modifications, what factor is currently being viewed as strongly associated with the development of some cancers? Family genetics Emotional coping skills Environmental stressors Lifestyle choices

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When discussing DNA replication, which enzyme is most important? RNA polymerase Messenger RNA DNA polymerase Transfer RNA

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Which information would a nurse practitioner include in an educational session on the process of epigenetics? DNA deoxygenation Folate acetylation DNA methylation Folate deacetylation

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Which of the following disorders is manifested primarily in males? Neurofibromatosis Klinefelter syndrome Muscular dystrophy Cystic fibrosis

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Which response is most appropriate when the parents (both heterozygotes) of a child born with cystic fibrosis ask the probability of future pregnancies resulting in a child inheriting the disease? 100% 50% 25% 75%

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Which statement indicates a correct understanding of mutations? "Mutations always lead to genetic disease." "Mutations will always lead to death of the individual." "Mutations are any inherited alteration of genetic material." "Mutations are enzymes that travel along the DNA."

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Which type of DNA segment is bound tightly to its associated histones? Chromatin Nucleosomes Heterochromatic Euchromatic

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Which epigenetic mechanisms alter the charges of the histone proteins? Select all that apply Noncoding RNAs MicroRNAs DNA Methylation DNA Hydroxymethylation Genomic Imprinting

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A newlywed couple has an ultrasound that shows that they are having a boy. Which genetic disorders are more likely in their child? PKU Huntington Disease Hemophilia A Fragile X Syndrome Duchenne Muscular Dystrophy

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Which diseases are linked to epigenetics? Select all that apply Diabetes Alcoholism Depression Posttraumatic Stress Disorder (PTSD) Autism-Spectrum Disorder Coronary Artery Disease

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A 12-year-old male is diagnosed with Klinefelter syndrome. His karyotype would reveal which of the following? XY XX XYY XXY

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A 15-year-old female is diagnosed with Prader-Willi syndrome. This condition is an example of: an autosomal recessive trait. a sex-linked trait. an autosomal dominant trait. genomic imprinting.

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A 20-year-old pregnant female gives birth to a stillborn child. Autopsy reveals that the fetus has 92 chromosomes. What term may be on the autopsy report to describe this condition? Triploidy Aneuploidy Biploidy Tetraploidy

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A 5-year-old male presents with mental retardation and is diagnosed with Fragile X syndrome. When the parents ask what caused this, the nurse practitioner responds with: mutation in the transmembrane conductance regulator. nondisjunction of chromosome 21 translocation of the Philadelphia chromosome. expansion of cytosine-guanine-guanine (CGG) repeats 200.

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A biologist is explaining how RNA directs the synthesis of protein. Which process is the biologist describing? Termination Translocation Transcription Translation

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A cell that does not contain a multiple of 23 chromosomes is called a _____ cell. diploid haploid euploid polyploid

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A nurse practitioner observes a child with short stature, hypotonia, intellectual disability, and a body mass index of 35. Which would the nurse practitioner identify as the possible syndrome exhibited in the child? Beckwith-Wiedemann syndrome Fragile X syndrome Angelman Russell-Silver syndrome Prader-Willi syndrome

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A patient, age 9, is admitted to a pediatric unit with Duchenne muscular dystrophy. When planning care, the nurse recalls the patient inherited this condition through a trait that is: X-limited. X-linked dominant. X-influenced. X-linked recessive.

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An area of the genome that is normally densely methylated is found to be largely devoid of DNA methylation. What would be the effect on expression of the associated genes in this area? There would be a decrease in their expression. Expression would be the same. They would be not expressed at all. There would be an increase in their expression.

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The average length of microRNAs (miRNAs) consists of how many nucleotides? 88 11 44 22

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The base components of DNA are: P, G, C, and T. X, XX, XY, and YY. A, G, C, and U. A, G, C, and T.

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The regions of the heterogeneous nuclear RNA that must be spliced out to form functional RNA are called: anticodon. promoter sites. exons. introns.

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To express a polygenic trait: penetrance must occur. multiple mutations must occur in the same family. genes must interact with the environment. several genes must act together.

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What is the diagnosis of a 13-year-old female who has a karyotype that reveals an absent homologous X chromosome with only a single X chromosome present? Her features include a short stature, widely spaced nipples, and a reduced carrying angle at the elbow. Down syndrome Cri du chat syndrome Klinefelter syndrome Turner syndrome

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What is the result of homologous chromosomes failing to separate during meiosis? Polyploidy Conjoined twins Neurofibromatosis Nondisjunction

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Which disease is known to have a strong familial association, attributed to several different genes, and requires early and increased screening? Hemophilia A Marfan Syndrome Cystic Fibrosis Colon Cancer

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Which genetic test result would indicate Klinefelter syndrome? 45, X 45, XXY 47, X 47, XXY

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Which genetic test result would indicate Klinefelter syndrome? 47, X 45, X 45, XXY 47, XXY

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Which percentage of genes are imprinted? 10 25 50 1

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Which statement describes the circumstances of fragile S-associated primary ovarian insufficiency? Genetic changes cause the phenomenon Neither epigenetic nor genetic changes are present Epigenetic changes are occurring Epigenetic changes are coincidental with genetic changes

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Which sources are most likely responsible for the presence of large numbers of Tet enzymes in sample cells? Select all that apply Sperm Heart Liver Tumor Embryo

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