MDLS Exam #4

question

Why does an embryo with a balanced translocation have the same chance for normal development that an embryo with a normal karyotype has?
answer

The location of the genetic material is abnormal with a balanced translocation, there are no missing or extra alleles
question

How is a Robertsonian translocation different from a reciprocal translocation?
answer

Robertsonian translocations occur between whole acrocentric chromosomes and reciprocal translocations occur between any two nonhomologous chromosomes.
question

Why is Down Syndrome the most common trisomy disorder seen among live born infants?
answer

The extra alleles from triosomies of larger chromosomes are embyro lethal
question

What is the most common chromosomal abnormality concieved?
answer

Turner syndrome
question

What statement regarding partial chromosomal deletions or duplications is true?
answer

They result in either a triple does or some gene alleles or a single dose of some alleles
question

Which factor has the greatest influence on the expression of a genetic disorder such a Prader-Willi syndrome or Angelman syndrome through the process of genomic imprinting?
answer

The gender of the parent transmitting the deletion
question

What is the best explanation of a child having the physical phenotype of Down syndome but having a totally normal karyotype on chromosomal analysis of blood?
answer

Mosaicism of trisomy 21 in various tissues
question

What is the primary purpose of a pedigree?
answer

To identify family members places within an extended family and describe their medical history
question

Martha has Alzheimers disease. She and her daughter Melanie provided care for Martha’s mother Margaret when she had severe Alzherimer’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 Alzheimers risk in her family. Who in this family is the most proband?
answer

Megan
question

Why is a pedigree considered an “unstable” product?
answer

The health of living family members continues to evolve
question

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?
answer

3
question

What does a horizontal line between a circle symbol and a square symbol as the only line connecting directly connecting two individuals line signify on a pedigree?
answer

the individuals are related by blood
question

Which activity would a general registered nurse be expected to perform as part of genomic care?
answer

Obtaining an accurate family history and physical assessment data
question

What is the significance of a pedigree symbol consisting of a square with a diagonal slash mark through it?
answer

deceased male
question

How are Punnett Squares and pedigrees different?
answer

Punnett squares represent genotypes and pedigrees represent phenotypes
question

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?
answer

All children have a 50% risk for being affected and a 50% risk for being a carrier
question

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?
answer

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

How are twins indicated on a pedigree?
answer

The vertical lines so each twin begin at the same point on parents horizontal mating line
question

Which types of problems are more likely to be caused by a chromosomal abnormality?
answer

Syndromes
question

Which term is used to describe an anomaly caused by a physical or mechanical force that prevents the proper growth of a structure that would have developed normally if the force was not present?
answer

Deformation
question

What term is used to describe the condition of a child who has several dysmorphic features that are related to a single known genetic cause?
answer

Syndrome
question

How is a sequence different from a syndrome?
answer

In a sequence one structural problem leads to development of other problems, whereas a syndrome is a collection of separate but consistent anomalies.
question

How does genetic assessment differ from routine physical assessment?
answer

Genetic assessment encompasses routine physical assessment and always adds consideration of genetic causes for findings
question

A patient states that she has heard that the origin of most cancers is “genetic” What is the best response?
answer

Cancers arise in cells that have alterations in the genes
question

Which statement regarding the biology of cancer is always true?
answer

Cancer cells arise from normal cells
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Which of these qualities is common to cancer cells?
answer

They continue to grow even when surrounded by other cells
question

How are malignant tumors different from benign tumors?
answer

Benign tumors retain parental cell functions, and malignant tumors lose parental cell functions
question

Which statement best describes the role of tumor suppressor genes in cancer development?
answer

Tumor suppressor genes control or modify the activity of oncogenes, reducing the risk for cancer development
question

What is the result of mutation occurring in a suppressor gene?
answer

Loss of an existing function
question

Which statement regarding general cancer development is true?
answer

The risk for cancer development increases with age
question

What is thought to be the usual function of a normal BRCA2 gene?
answer

Suppresses the growth potential of a variety of oncogenes.
question

How does an acquired mutation in a somatic cell gene leading to cancer development affect a person’s ability to pass on a predispositions for that cancer type to his or her children?
answer

There is no risk of passing on a cancer predisposition from a somatic cell mutation
question

Juliet tells a nurse that she ha three aunts (two on her fathers side, ages 42 and 56, and on eon her mothers side, age 62) who were diagnosed with breast cancer. She asks if she should have genetic testing. What should the nurse tell her?
answer

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

Which statement about a “germline” mutation in either a cancer suppressor gene or an oncogene is accurate?
answer

Cancer risk increases bu additional mutations are required for cancer development
question

How do genetic/genomic issues influence individual variation of the response to a specific drug?
answer

Polymorphicisms of genes encoding metabolizing enzymes
question

How are the actions of naturally occurring estrogen changed when a patient is taking a drug that is an estrogen agonist?
answer

Actions are increased
question

Which type of parent compound must undergo first phase metabolism to produce the intended response after it enters the body?
answer

A prodrug
question

What would be the patients response to a normal drug dose that because of a genetic variations in an enzyme that prepared the drug for elimination results in a blood level that is below the minimum effective concentration (MEC)?
answer

The intended response fails to be produced
question

A patient has a very high concentration of insulin receptors on cells that require insulin for glucose to enter.How should insulin dosages be adjusted for this patient to have blood glucose levels within the normal range?
answer

Insulin dosages should be decreased because the drug will exert its actions at lower concentrations
question

A patient with a fractured elbow in the emergency department states that he need morphine for pain rather than codeine because the last time he had a painful injury, codeine was not effective in managing his pain. What is the nurses best response or action?
answer

Communicate this information to the admitting physician
question

What type of genetic test provides information about an asymptomatic person’s risk for having a child with a specific autosomal recessive disorder in the future?
answer

Carrier test
question

A patient is identified as an ultra-rapid metabolizer for drugs that are prepared for elimination by CYP2D6. What effect will this have on the patients ability to benefit from any active drug that is metabolized by this enzyme?
answer

Both intended responses and side effects decrease
question

An Asian American man and his Caucasian wife are both taking warfarin (coumadin) daily because of atrial fibrillation. Polymophisms in the CYP2C9 metabolizing enzyme are common in Asian and Asian Americans. The husband asks why he is prescribed a much smaller than average dose of the drug to keep this international normalized ratio (INR) at 2.0 and his wife takes the average dose even though he is taller and heavier than she is. What is the nurse’s best response?
answer

Many Asian Americans do not break down warfarin as fast as Caucasians, so the drug is more effective at lower dosages.
question

What type of genetic testing examines a person’s chromosomes for variations in number or structure?
answer

Cytogenetic testing
question

How is the polymerase chain reaction (PCR) helpful in the process of genetic testing?
answer

increasing the amount of DNA being tested, this promoting accuracy
question

A woman who sister tested positive for a specific mutation in the BRCA1 gene, which increases the risk for breast and ovarian cancer, is found not to have that mutation but does have a mutation of unknown significance near the known mutation site. How should this woman be counseled?
answer

She should be informed that she does not have the specific mutation but that because another mutation is present she should be vigilant about screening
question

Which of the following types of testing is most likely to be done when a healthy couple would like to know if they might pass on a recessive condition to their baby?
answer

Carrier genetic screening
question

Which of the following types of genetic testing will confirm that they individual will eventually develop the disease if she or he lives long enough?
answer

Presymptomatic
question

Which of the following is true about access to genetic testing?
answer

In many states, genetic testing can be obtained from companies that advertise directly to consumers
question

A woman with a family history of a breast cancer gene mutation is tested for variations in BRCA1 or BRCA2. How would you explain her results?
answer

If she has a positive result, she has a much greater risk of developing breast cancer than the general population

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