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.
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.
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
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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
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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 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?
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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.”
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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1. ANS: A
A pedigree is a pictorial or graphic illustration of family members’ places within a family and their medical history. It can be used as one tool to begin to identify health issues that may have a genetic component. It is not used to determine “blame” for a genetic mutation. The person within a kindred who is responsible for bringing the family to the attention of a genetics professional is a member of the pedigree, but his or her identification is not the purpose of a pedigree.
PTS: 1
2. ANS: D
Completing a family history is an easy and affordable way to begin genetic screening; however, family history is not a stable thing. On the day you take your patient’s family history, there may be no one with cardiac problems. The next day, your patient’s 35-year-old brother or sister could have a myocardial infarction, changing your patient’s genetic risk for cardiovascular disease from low to high.
PTS: 1
3. ANS: B
A horizontal dashed line between two people in a pedigree indicates that the individuals have a casual sexual relationship with each other and are not married to each other. They each could be married to someone else. This union may or may not produce offspring.
PTS: 1
4. ANS: D
The best way for a family history to be as complete and accurate as possible is for as many family members as possible to construct it together using their memories, documents, and pictures. Even those who have some cognitive impairment may remember incidents or stories that trigger memories of events in other family members.
PTS: 1
5. ANS: A
The acronym SCREEN stands for some concern about diseases that might run in the family, especially problems with reproduction, early disease or death in family members, ethnicity (some genetic diseases are more common in people who are from certain ethnic groups), and nongenetic risk factors for disease.
PTS: 1
6. ANS: D
Neurodevelopmental disorders and extreme presentations of common conditions are worth investigating by a genetics professional. Breast cancer, colon cancer, and myocardial infarction in the family history may require a genetics referral, but usually only when they appear early. As discussed in Chapter 3, physical traits from remote parents can be passed down and expressed many generations later, enabling some siblings to not resemble each other or their parents.
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PTS: 1
7. ANS: C
Unless a pedigree shows at least three generations, no supportable conclusions regarding transmission patterns can be made.
PTS: 1
8. ANS: B
A double line indicates consanguinity, or relationship by blood. It indicates a mating between two related family members. Brother and sister are connected by “sibship lines,” and parents and children are indicated by lines of descent. A single horizontal line between a circle and a square indicates a mating but not marital status between the two.
PTS: 1
9. ANS: D
The proband is the person within a family who brought the potential genetic issue to the attention of a health-care professional or genetics professional. Lucy, even though she does not have Alzheimer’s but wishes to discuss whether the disorder has a genetic component because three related parental individuals have expressed the problem, is the proband.
PTS: 1
10. ANS: C
Being able to organize a family history into a pedigree is an important skill for all health professionals and an expectation for registered nurses with a bachelor’s degree in nursing (BSN). The American Association of Colleges of Nursing has included in its document Essentials of Baccalaureate Education for Professional Nursing Practice 2008 that all BSN graduates must be able to “generate a pedigree from a three-generation family history using standardized symbols and terminology.” It is important that the nurse not attempt to provide genetic counseling, as this is beyond his or her scope of practice; however, it is helpful to have a good sense of when referral should be considered even though a general registered nurse does not directly perform referrals to genetic professionals.
PTS: 1
11. ANS: A
Ethnicity is critical personal information to determine because some genetic diseases are more common in people who are from certain ethnic groups. For example, Tay–Sachs disease and Gaucher disease are at least 10 times more common among people of Ashkenazi Jewish heritage (regardless of what religion they practice) than among non-Jews. A person’s ethnicity does not change and cannot be modified. Education, profession, and nutrition status have little, if any, influence on the expression of a genetic disorder.
PTS: 1
12. ANS: D
Circles are used to represent women, and squares represent men. A diagonal slash through a gender symbol indicates that the person is deceased.
PTS: 1
13. ANS: D
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The standardized symbols for pedigrees include gender, relationships, birth order, adoption (in or out), and matings. There are no standard symbols for any specific type of genetic, sporadic, or environmental-related health problem. The person developing the pedigree is obligated to provide a legend so that anyone who reads the pedigree will know the family’s health history.
PTS: 1
14. ANS: B
Punnett squares are diagrams that are used to determine the risk of offspring being affected when the mode of transmission and the parents’ carrier status are known. It is based on genotype. Pedigrees show relationships and expressed traits or disorders, the phenotype. Neither pedigrees nor Punnett squares by themselves can identify actual carrier status. Pedigrees can suggest carrier status but not prove it. Punnett squares require the genotypes for a specific trait to be known for both parents to demonstrate probabilities.
PTS: 1
15. ANS: B
With an autosomal disorder, males and females are affected equally. The mother has two mutated alleles and therefore will transmit a mutated allele to all offspring. The father has only one mutated allele and has one normal allele. Each of his children has a 50% risk for inheriting his mutated allele and a 50% risk for inheriting his normal allele. Because all of the children will have a mutated allele from the mother, all children have a 50% risk for being affected and a 50% risk for being a carrier.
PTS: 1
16. ANS: A
Finding representation in each generation and that both males and females are affected provides strong evidence that the trait is being transmitted in an AD manner. When only males are affected, the trait is more likely to be X-linked recessive, with some women being carriers. Recessive traits tend to appear on a pedigree as “skipped generations” because carriers typically do not have the phenotype. A single affected person is more likely found with an autosomal-recessive transmission, where two unaffected carriers have mated. The trait may not appear anywhere else in the pedigree. Of course, a new mutation of an AD trait could also cause only one person to be affected, but we are looking for the most probable answer.
PTS: 1
17. ANS: D
Marjory’s aunts on her father’s side were much younger than average and premenopausal when they were affected. This would raise concern that there might be genetic risk factors in the family. The fact that they are on her father’s side makes no difference in genetic risk, and it is unclear whether or not Marjory should have genetic testing until she speaks with a genetics professional who can take a thorough family history and accurately discuss her risk.
PTS: 1
18. ANS: A
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Many parents believe that the probability of transmitting an autosomal-dominant trait to their children is 50% for the total number of children, rather than for each pregnancy. Thus, the statement the mother made is incorrect. Having the first child express an autosomal-dominant health problem does not mean there is no risk for the second child also expressing it. Also, only the risk or probability is 50%. If they had three more children, it is possible that all three could have the problem, that all three could not have the problem, or that some may have it and not the other(s).
PTS: 1
19. ANS: C
First-degree relatives are those that have a direct, single-line blood relationship within a pedigree (vertical or horizontal) with no other relative between them. Grandfather and grandson have a parent in between them. Aunt and nephew have a sibling/parent in between them. Cousins have two sibling parents in between them.
PTS: 1
20. ANS: C
The vertical lines connecting each twin to the parents begin at the same point on the parents’ horizontal mating line, making an upside-down “V” shape. When the twins are monozygotic, there is a small horizontal line connecting the twins’ vertical lines.
PTS: 1
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even as now, was complete for the merry ladies of the Court of Syphax without the presence of the ever light-hearted Lælius. And Elissa herself knew full well the nobility of the young man, and was ever most courteous and friendly to him.
One day Lælius took his friend and chief to task.
“Scipio,” quoth he, “in the name of all the gods of Olympus! what is this game that thou art playing with the daughter of Hannibal? Wouldst thou make of her thy mistress?”
Scipio flared out in a rage.
“Caius, thou and I have been friends from boyhood; but dare to utter such a suggestion again and I strike thee to the ground!” And he laid his hand upon his sword.
“By Cupid and Venus! ’tis more serious even than I imagined,” replied his companion, laughing. “So thou wilt kill me—because of what? simply because being thy dearest friend I would see thee happy. Tut, tut, man, ’tis childish. I but meant to infer that ’twould be difficult for thee to make her thy wife, and if all that rumour says be true she hath already been the mistress of thine old enemy Maharbal, the Numidian, then why not thine? There is an old Roman saying that there are many women who have never had a lover; but there are none who remain with only one. Then why shouldst thou not succeed, especially in the absence of thy rival?”
“Simply because Elissa is far too noble-minded, and I myself would not take her so unless all other means failed. But why should I not marry her, Lælius? It would be the best thing for both Rome and Carthage. For once she were my wife, how could the war continue? To make her so would be the greatest act of policy that hath ever been wrought since the commencement of the first Punic war. For Hannibal could no longer prosecute the war in Italy were his daughter the wife of Scipio. Neither could Hasdrubal nor Mago continue the war in Iberia against our legions were their niece to become my spouse. Only think of the thousands of lives that may be saved—the thousands of homesteads that may be spared from destruction, the cities that may never sustain a siege, the matrons and maidens that will never run the risk of violation or slavery, should the daughter of Hannibal become the wife of Scipio.”
Lælius, carried away by these words, sprang up enthusiastically.
“By Jupiter and Juno! By Mars and Venus! ’tis true, Scipio! ’twould bring a lasting peace. Well, ask her straight out, and may all the gods speed thy wooing. For on this matter I now see well hangs a most notable crisis. If thou canst win her now, the war ’twixt Rome and Carthage will be stayed. This Elissa is, in very truth, most wondrous beautiful, and once she were thy wife she would become a Roman. The world is quite big enough for Rome and Carthage together, therefore why should they not join hands? and, in sooth, what might we not do could we but form a combination? Think of it! Scipio, a combination between Rome and Carthage—Rome with all its glorious records of land victories, Carthage with its splendid fleets and immense naval power. Together we could conquer all the known and unknown worlds. ’Tis glorious, oh Scipio! I am with thee; there is my hand.”
Scipio was about to reply.
“Nay, speak not yet,” continued the other. “Think what we could win together. The League of the Achæans, the League of the Ætolians, the power of Macedon, the strength of Antiochus in Asia Minor, the pride of the Ptolemies in Egypt, all this together Carthage and Rome can subdue. And the honest love of a man for a maiden may accomplish all this. And a most glorious maiden is she, too. For whether or no she hath loved this Numidian Maharbal, there never yet was in this world such a woman as this Elissa, so strong is she in herself, so beautiful and so powerful. Make her thy wife, Scipio; then shall Rome and Carthage together conquer and reign supreme over all the world. Now, I leave thee.”
Gripping his friend’s hand warmly, Caius Lælius turned and left him. Every word that he had said was true: the whole future fate of the world depended upon that infinitesimal part of the world contained in one tiny unit—the body of one fair woman.
T was a cool and refreshing northern breeze wafted off the seas when one morning the young warrior Scipio persuaded the Carthaginian maid to accompany him on horseback to a green, palm-studded headland stretching far out into the sea. Having dismounted and left their steeds with some slaves, the twain wandered on until they came to a sort of cave.
It was a natural archway overhung with wild fig and caper bushes, and having an aspect towards the delightfully blue waters of the Mediterranean. There had once been a temple to some god or goddess at the spot, and they seated themselves upon a fallen column in the recess. This was shaded by overhanging and luxuriant tufts of dew-bespangled maidenhair fern; it was, in fact, a most enchanting spot. Never was there such a glorious day; it was a day when merely to live was in itself an infinite joy. Across the sea could be seen, a hundred miles away, the faint outline of the Spanish land in a radiant haze, while close at hand, the rock-doves uttered cooing notes of love.
Placing his arm round Elissa’s shoulder and drawing her face near to his own, Scipio spoke.
“Elissa, thou canst see in the far distance the headlands showing; they are the coasts of Iberia. But what thou canst not see is the future of the world, and that thou hast it in thine own hands to shape that future now. Now, I can foresee much. And this I tell thee. I love thee, dear, and love thee deeply, and, wilt thou but give me thy love in return, thy nation and mine can conquer the world together. But before all I ask one thing, I ask thy love.”
Elissa’s heart beat fast. The memory of her own love, Maharbal, came to her mind. This man, this Scipio, told upon her strangely, yet could she not forget Maharbal. She remained silent, gazing over the sea and nervously twisting her fingers together.
“Canst thou not love me?” Scipio asked, as he rose and confronted her, capturing and holding her not altogether unyielding fingers in his own strong grasp. “Look out, dear one, over the seas; all those seas may be ours. Watch those far distant headlands. They now belong to Carthage, ’tis true, but they will, should thou not accede unto my prayer, most undoubtedly one day belong to Rome. Yet, give me but thy love, thy hand, and together, thou and I, will conquer and rule the world, and Rome and Carthage will be one alone.”
Bending low, he kissed her hands with gentle kisses, stealing all along from finger-tips to wrist. Still she remained silent, lost in deepest thought. For she was thinking of her country and her past.
After a period of thought she suddenly threw his hands from her.
“And Maharbal?” she exclaimed, “what share is he to have in this ruling of the world?”
The young Roman had not expected this.
“Maharbal!” he answered scornfully, “what share can such a one as Maharbal have in the universal dominion that I propose to thee shouldst thou but unite thy lot with mine? Maharbal, if he be not already dead, can still continue his career as a bold cavalry leader; but what can he do for the world save send many men out of it before their time? ’Tis out of place, methinks, to talk of Maharbal when the future of nations is at stake, and all dependeth but on thee and me.”
Elissa sprung to her feet in turn, and looked Scipio straight in the eyes.
Laughing half scornfully, “Listen unto me,” she said, “oh Scipio. Thou art but a boy for all thine exploits, and art carried away partly by thine enthusiasm and partly by thy love of me, for which, believe me, I am truly grateful, for thou art indeed one worthy to be loved. Yet listen, thou art dreaming a dream which is impossible of completion. Thy union with me could never carry with it the weight that thou dost imagine. I, being Hannibal’s daughter, should be hated by Rome. Thy marriage would not be recognised; I should soon be reduced to the position of thy mere mistress. Rome and Carthage together would never conquer the world, for the sole object of each is to conquer the other, and thus the old racial hatred would never
permit it. Could I for one instant believe that it could be so, I would, for my country’s sake, and even in the interest of all humanity, throw over mine allegiance to Maharbal and give myself unto thee now. But I see it is but a dream, and, therefore, were there even no Maharbal in existence—although my heart tells me that I should love thee and love thee dearly—yet would I not give myself unto thee. Nay! it may not be; my natural intelligence persuades me that party feeling in Rome and Carthage, and mine own father’s hatred of Rome, would never allow this glorious union between the two countries which thou hast most patriotically imagined. Therefore, Scipio, leave thou me for ever, for I can never be thine. Things being thus, I only belong to one man living, and to him I will be true.”
Scipio stamped his foot with rage.
“Curse him!” he cried. “Curse him, by all the gods of Olympus and Hades! He needs must come between me and victory at every turn, and never more so than now. And thou art acting ill for thy country, Elissa; mark thou my word. Some day, moreover, in spite of this thrice-accursed Maharbal, thou shalt be mine whether thou wilt or no.”
Elissa’s colour rose, and she laughed at him.
“Thine! whether I wilt or no, my lord Scipio? Surely a somewhat presumptuous boast, seeing how my father Hannibal is slaying thy compatriots by tens of thousands in Italia, and how I myself have been present at the terrible discomfiture of thy relatives in Spain—a proud boast indeed. Thine, indeed!” she added scornfully, “never while Maharbal exists will I be thine, unless thou capture me in honest war; but remember Hannibal’s daughter is accustomed to warfare, and will not be easily taken, I assure thee.”
“Nevertheless,” responded Scipio sternly, “since thou hast thus rejected my proposals, thou knowest, full well, Elissa, that should I capture thee as thou sayst in honest warfare, thou wilt no longer have the chance of becoming my wife. Thou wilt become my slave, ay, my slave, nothing more. And how wouldst thou submit to the consequences?”
“Scipio,” answered Elissa smilingly, for her anger had evaporated, knowing as she did the utter devotion of her companion, “shouldst thou conquer me in war, as I have conquered thee in love, I would