Deck 5: Genetic and Congenital Disorders

Question 1

An infant who is 4 days postpartum has been diagnosed with a single-gene disorder. The parents of the child have a number of questions about the etiology of the health problem, which the physician is attempting to address in detail. Which of the following teaching points most accurately captures an aspect of single-gene congenital disorders?

A) Affected genes are present on autosomal chromosomes rather than sex chromosomes.
B) The majority of single-gene disorders manifest near the time of puberty.
C) A particular defect can be caused by mutations at several different loci.
D) Single-gene disorders are associated with existing rather than new mutations.

Answer 1

A particular defect can be caused by mutations at several different loci.

Question 2

A male client of a nurse practitioner has an autosomal dominant disorder. The client and his partner are considering starting a family. Which of the following statements indicates the client has an adequate understanding of the genetic basis of this health problem?

A) "I know there's no way of accurately determining the chance that my child will inherit the disease."
B) "My children who don't have the disease still run the risk of passing it on to their children."
C) "I know that new genetic mutations won't occur between generations."
D) "I know that a single mutant allele is to blame for the health problem."

Answer 2

"I know that a single mutant allele is to blame for the health problem."

Question 3

A 6-year-old girl with a diagnosis of Marfan syndrome is being assessed at a community health clinic. Which of the following assessments would be the health care professional's lowest priority?

A) A test of the child's visual acuity
B) A musculoskeletal assessment
C) Tests of kidney function
D) Cardiovascular assessment

Answer 3

Tests of kidney function

Question 4

A clinician who works on a cardiac care unit of a hospital is providing care for a number of clients. Which client most likely has a genetic disorder arising from inheritance of a single gene?

A) A short, thin, 56-year-old woman with hypertension
B) A tall, thin, myopic, 28-year-old woman with mitral valve prolapse
C) An overweight, middle-aged male smoker with coronary artery disease
D) A thin, middle-aged nonsmoking man with a repaired atrial septal defect

Question 5

The nurse working in a pediatric office is scheduled to assess a female adolescent diagnosed with neurofibromatosis (NF) type 1. During this assessment, the nurse should be assessing the teenager for which of the following clinical manifestations of NF-1? Select all that apply.

A) Irregular menstrual periods
B) Severe scoliosis
C) Hearing loss
D) Complaints of having a hard time concentrating in school
E) Speech impediments

Question 6

A new older female client at a long-term care facility has a diagnosis of type 1 neurofibromatosis. As part of the intake assessment protocol for the facility, the clinical educator is teaching the care staff about the diagnosis. Which of the following statements most accurately conveys an aspect of neurofibromatosis?

A) "The neurofibroma lesions are unsightly for the client, but they are not painful."
B) "Her diagnosis puts her at higher risk of developing a malignant neoplasm."
C) "She is living with an example of an autosomal recessive disorder."
D) "The client is likely to be photosensitive as a result of the disease."

Question 7

As part of an orientation to a genetic counseling practice, a group of medical students are differentiating between autosomal recessive disorders and autosomal dominant disorders. Which of the following statements is true of autosomal recessive disorders?

A) They can manifest when present in one or both gene pairs.
B) There is a one in two chance of an affected child in each pregnancy with an affected mother.
C) They tend to have a more uniform symptomatology than autosomal dominant disorders.
D) The associated disorders are usually attributable to abnormalities in structural proteins.

Question 8

A 6-year-old boy who has mental retardation secondary to fragile X syndrome has been admitted to hospital with a mitral valve prolapse. A health care worker who is providing care for the family should have which of the following statements as part of her knowledge base around the disease?

A) The common pattern of inheritance is an affected mother who carries one normal and one mutant allele.
B) The boy's mother had a 100% chance of transmitting the defective gene to her son.
C) Genes of the boy's Y chromosome can be affected in addition to the X chromosome.
D) The boy will pass the gene to all his future daughters who will become carriers.

Question 9

Two health care workers are comparing the etiology and incidence of multifactorial inheritance disorders and single-gene disorders. Which of the following statements best captures the relationship between the two types of genetic disorders?

A) "Multifactorial disorders and single-gene disorders can both be predicted quite accurately."
B) "Multifactorial disorders are more likely to involve multiple organs."
C) "Multifactorial disorders manifest themselves at birth."
D) "A couple with a child with a multifactorial disorder has a higher risk of having another with the same disorder."

Question 10

While taking their daily walk, the nurse is asked by a neighbor what centric fusion (robertsonian) translocation means. She tells you that a family member has been diagnosed with this and is now afraid to have children. Given this diagnosis, what may be potential risks for her offspring?

A) If chromosome 21 is involved, there is a high risk for producing a child with Down syndrome.
B) Since the extremely short fragment only contains a small amount of genetic material, there should be no additional risk than the normal population.
C) This translocation of genetic material places the child at high risk for having multiple limb abnormalities.
D) Cleft lip with cleft palate is frequently associated with this translocation of genetic material.

Question 11

A physician is working with a 30-year-old male client with Down syndrome who has been admitted to hospital with a diagnosis of acute leukemia. Which of the following physical assessment findings would the physician be more likely to find in an examination of this client than in other clients without Down syndrome?

A) Hepatomegaly
B) Decreased visual acuity
C) Congenital heart defects
D) Diabetes mellitus

Question 12

An 11-year-old girl is suspected of having Turner syndrome. Which of the following diagnostic tests would be the most useful component of screening to confirm or rule out the diagnosis?

A) Computed tomography of the head
B) Echocardiogram
C) Bone scan
D) Liver biopsy

Question 13

If a male child was born with Klinefelter syndrome, as the child matures and becomes an adolescent, the nurse will assess the child for which of the following clinical manifestations listed below? Select all that apply.

A) Enlarged breast tissue
B) Sparse facial and pubic hair
C) Tall stature out of proportion
D) Severe mental retardation
E) Higher than average linguistic skills

Question 14

As part of her prenatal care, a pregnant woman and her partner are being taught by a community health nurse. Which of the following points about the teratogenic effects of different substances should the nurse include in his teaching?

A) "Your developing baby is most vulnerable during the first 2 months of your pregnancy."
B) "You need to be very careful with vitamin D and its derivatives."
C) "Keep in mind that a high percentage of genetic abnormalities are attributable to drug origins."
D) "Your best option is to avoid using any drugs during your pregnancy."

Question 15

While taking a prenatal history, the nurse would be most concerned about severe teratogenic effects on the fetus if the mother admits to taking which medications prior to finding out that she was pregnant. Select all that apply.

A) Warfarin (Coumadin) for chronic atrial fibrillation
B) Ethyl alcohol ingestion regularly every weekend and some nights throughout the week
C) Isotretinoin (Accutane) for acne.
D) Over-the-counter cetirizine (Zyrtec) for seasonal allergies
E) Tetracycline for acne

Question 16

A woman gives birth to a small infant with a malformed skull. The infant grows abnormally slowly and shows signs of substantial cognitive and intellectual deficits. The child also has facial abnormalities that become more striking as it develops. What might you expect to find in the mother's pregnancy history?

A) Folic acid deficiency
B) Chronic alcohol use
C) Chronic cocaine use
D) Active herpes simplex infection

Question 17

Which of the following pregnant women has most likely encountered the greatest increase in the risk that her child will have a fetal anomaly?

A) A woman with diagnoses of syphilis and cirrhosis of the liver
B) A woman who has herpes simplex and who has recently recovered from endocarditis
C) A woman with chronic obstructive pulmonary syndrome and tuberculosis
D) A woman with diagnoses of insulin-dependent diabetes mellitus and peripheral neuropathy

Question 18

While traveling throughout Asia, a young couple was exposed to many cultural experiences. One day, they were standing in line, and the person in front of them was clearly displaying signs of illness and had a pink or light red rash on his face with itching. Their guide commented on a recent outbreak of rubella. Upon return to the United States, the couple found out they were pregnant. Upon arrival at the clinic, they are very concerned about their possible exposure to rubella. From this history, the nurse knows that this infant is at high risk for which of the following complications? Select all that apply.

A) Blindness or cataracts
B) Deafness
C) Facial deformities like small palpebral fissures or thin vermillion border
D) Short, flipper-like appendages
E) Small outbreak of blisters around its eyes and mouth 2 weeks after delivery

Question 19

A couple who are pregnant with their first child have made an appointment with a clinical geneticist to discuss prenatal screening. The man states that they, "just want to make sure that there is nothing wrong with our baby." How could the clinician best respond to this statement?

A) "We can't rule out all abnormalities, but a routine fetal tissue biopsy can yield useful information."
B) "Testing the umbilical blood and performing amniocentesis can give us some information, but not a guarantee."
C) "Prenatal screening is not usually necessary unless you are among a high-risk group."
D) "You need to be aware that if abnormalities are detected, termination is normally required."

Question 20

While preparing a patient about to undergo percutaneous umbilical cord blood sampling, which of the following information should the nurse provide as preprocedure teaching? Select all that apply.

A) Once the procedure is begun, you must lie very still since they will be inserting a needle through the uterine wall.
B) We will put you into the stirrups and dilate your cervix with a small catheter so that we can obtain a cord sample.
C) During the procedure, an ultrasound will be utilized to guide the catheter into the correct position.
D) We will send a sample of amniotic fluid to a regional medical center to have DNA tests performed for any genetic abnormality.