Family History and Pedigree Construction - Practice Questions CH8 PDF

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Chapter 8: Family History and Pedigree Construction Multiple Choice Identify the choice that best completes the statement or answers the question. ____

1. What is the primary purpose of a pedigree? A. To identify family members’ places within a kindred and describe their medical

history. B. To establish which person within a kindred is responsible for introducing a genetic

mutation into the family. C. To determine the specific risk of any one family member to develop or pass on a

genetic-based health problem. D. To establish which person within a kindred is responsible for bringing the family to

the attention of a genetics professional. ____

2. Why is a pedigree considered an “unstable” product? A. The person collecting the information may not be a genetics professional. B. Some family members may have lied about their reproductive history. C. The memories of older family members may be inaccurate. D. The health of living family members continues to evolve.

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3. What is the significance of a horizontal dashed line drawn between a male and a female? A. The two siblings are both adopted. B. The individuals have a casual sexual relationship and are not married. C. The individuals have a third-degree (or later) blood relationship with each other. D. Neither of the two individuals is a first- or second-degree relative of the proband.

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4. What is the best way to ensure completeness and accuracy in constructing a pedigree? A. Eliminating the contributed information from any family member who is

cognitively impaired. B. Asking the oldest person in the kindred to provide the familial information. C. Having several family members work together to develop the pedigree. D. Using a template for drawing the symbols. ____

5. In the acronym “SCREEN” for formulating questions to ask that may indicate a heritable trait or

health problem, what does the second “E” signify? A. The ethnicity of family members B. That the problem or trait is present in every generation of the family C. That the onset of the problem is present only among elderly family members D. That the trait or problem is equally represented by male and female family members ____

6. Which issue is considered a “red flag” for the need for referral to a genetics professional? A. A family history of both breast and colon cancer B. Myocardial infarction in several parents or grandparents older than 64 years of age C. The presence of brothers and sisters who do not resemble any known family

member D. The presence of neurodevelopmental disorders in one or more members of the

kindred

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____

7. When constructing a pedigree around a specific health problem, what is the minimal number of

generations needed to accurately assess the presence or absence of a genetic factor in disease development? A. One B. Two C. Three D. Four ____

8. What does a double horizontal line between a circle symbol and a square symbol as the only line

directly connecting two individuals signify on a pedigree? A. The individuals are parent and child. B. The individuals are related by blood. C. The individuals are brother and sister. D. The individuals have mated without being married. ____

9. Lois has Alzheimer’s disease. She and her daughter Linda provided care for Lois’s mother Leona

when she had severe Alzheimer’s disease. Now Linda, age 57, is showing signs of impaired memory. Linda’s daughter Lucy is pregnant with her first child and has contacted a genetic counselor to discuss Alzheimer’s risk in her family. Who in this family is the proband? A. Leona B. Lois C. Linda D. Lucy ____ 10. Which activity would a general registered nurse be expected to perform as part of genomic care? A. Calculating recurrence risk for parents who have just had a child with

nondisjunction Down syndrome B. Informing a patient that his test results are positive for a genetic disorder C. Obtaining an accurate family history and physical assessment data D. Requesting a consultation visit from a clinical geneticist ____ 11. Which demographic information could have an important influence on susceptibility to disorders

that have a strong genetic component? A. Ethnicity B. Education C. Profession D. Nutrition status ____ 12. What is the significance of a pedigree symbol consisting of a square with a diagonal slash mark

through it? A. Affected female B. Affected male C. Deceased female D. Deceased male ____ 13. Why is a legend necessary when constructing a pedigree that includes a health history? A. Gender-altering surgeries require either the drawing of both male and female

symbols for the same person or the use of a diamond instead of a circle or square. B. When a pedigree includes more than three generations, the relationships of

members in older (more remote) generations are less clear and must be explained. C. The gender of individuals lost in the first trimester of pregnancy cannot be

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established. D. Health problems do not have standard symbols. ____ 14. How are Punnett squares and pedigrees different? A. Pedigrees represent genotypes, and Punnett squares represent phenotypes. B. Punnett squares represent genotypes, and pedigrees represent phenotypes. C. Pedigrees can identify actual carriers of genetic mutations, whereas Punnett

squares only suggest carrier status. D. Punnett squares can identify actual carriers of genetic mutations, whereas

pedigrees only suggest carrier status. ____ 15. What is the risk for disease expression among the offspring of a woman who has an autosomal-

recessive disorder when her partner is a carrier for the same disorder? A. All sons will be unaffected; all daughters will be carriers. B. All children have a 50% risk for being affected and a 50% risk for being a carrier. C. Daughters have a 50% risk for being affected; all sons will either be affected or carriers. D. Each child of either gender has a 50% risk of being a carrier, a 25% risk of having the disease, and a 25% risk of neither being a carrier nor having the disease. ____ 16. Which observations in a pedigree indicate a probable autosomal-dominant (AD) trait transmission? A. Affected males and females appear in every generation. B. The pedigree shows only one affected individual. C. The trait appears to “skip” generations. D. Only males are affected. ____ 17. Marjory tells a nurse that she has three aunts with cancer. The two on her father’s side were

diagnosed with breast and ovarian cancers at ages 42 and 36. She also has one aunt on her mother’s side who was diagnosed with breast cancer at age 70. Marjory asks if she should have genetic testing. What should the nurse tell her? A. “Your family history indicates a high risk, and you should definitely have genetic testing.” B. “Because no men in your family are affected, it is not inherited cancer, so you don’t need mammograms or any special screening practices.” C. “Because your aunts were older when they got breast cancer, it was probably sporadic, and you should just have regular mammograms like everyone else.” D. “Your family history may indicate an increased risk for breast cancer, and a genetic counselor could help determine whether you could benefit from genetic testing.” ____ 18. A man with syndactyly, an autosomal-dominant condition, has one child who also has syndactyly.

His unaffected wife states, “Because the risk for having a child with this problem is 50% and our first child has the problem, the next child will not be affected.” What is the best response to this statement? A. “That is not quite true because the risk is 50% with each pregnancy, so with all future children, you would have a 50% risk.” B. “That is not quite true because you could also have the mutation but not show the problem if there is variable expressivity.” C. “That is correct, but if you have more than two children, half of them will have syndactyly, and 50% will not have it.” D. “That is correct, and if you only have two children, the second one will not have syndactyly.” Copyright © 2018 F. A. Davis Company

____ 19. Which pair of relatives represents a first-degree relationship? A. Grandfather and grandson B. Aunt and nephew C. Sister and brother D. Two cousins ____ 20. How are twins indicated on a pedigree? A. The two gender symbols are placed on top of each other. B. Each of the gender symbols is surrounded by an inward-facing set of brackets. C. The vertical lines to each twin begin at the same point on the parents’ horizontal

mating line. D. The one born first has a vertical line connected to the parents’ horizontal mating

line; the twin born second has a vertical line extending down from the first twin’s gender symbol.

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References Beery, T. A., Workman, M. L., & Eggert, J. A. (2018). Genetics and Genomics in Nursing and Health Care 2nd Edition. Retrieved from Davis Plus: https://davisplus.fadavis.com/ProductDetail/ProductDetail?urls=nursing-advanced-practice-genetics-genomics-health-care-beery-workman-2

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