Deck 6: Family History and Pedigree Construction

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

Answer 1

To identify family members' places within a kindred and describe their medical history

Question 2

A man with syndactyly,an autosomal dominant condition,has one child who also has syndactyly.His unaffected wife states "Since 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 all future children you have 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."

Answer 2

"That is not quite true because the risk is 50% with each pregnancy,so all future children you have would have a 50% risk."

Question 3

Which pair of relatives represents a first-degree relationship?

A)Grandfather and grandson
B)Aunt and nephew
C)Sister and brother
D)Cousins

Answer 3

Sister and brother

Question 4

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

Question 5

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 established.
D)Health problems do not have standard symbols.

Question 6

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."

Question 7

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

Question 8

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 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.

Question 9

Martha has Alzheimer's disease.She and her daughter Melanie provided care for Martha's mother Margaret when she had severe Alzheimer's disease.Now Melanie,age 57,is showing signs of impaired memory.Melanie's daughter Megan 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)Margaret
B)Martha
C)Melanie
D)Megan

Question 10

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.

Question 11

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.

Question 12

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.

Question 13

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

Question 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.

Question 15

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)1
B)2
C)3
D)4

Question 16

What does a double horizontal line between a circle symbol and a square symbol as the only line connecting directly connecting two individual's lines 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.

Question 17

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.