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?

Accepted Answer

A particular defect is not limited to any one specific locus. Single-gene disorders can be present on either autosomal or sex chromosomes, and they are primarily pediatric disorders. They can result from either existing or new mutations.

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?

Accepted Answer

Autosomal dominant disorders are the result of a single mutant allele from an affected parent. There is a 50% risk of transmission, and unaffected people do not pass on the disorder. New genetic mutations may occur between generations.

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?

Accepted Answer

The autosomal dominant disorder of Marfan syndrome is primarily manifested in the ocular, cardiovascular, and skeletal systems. These assessments would take priority over renal assessment.

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?

Accepted Answer

This patient exhibits several classic signs of Marfan syndrome, an autosomal dominant genetic disorder of the connective tissue. The other patients show signs of heart disease most likely caused by multiple factors.

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.

Accepted Answer

NF-1 children have many problems, often not apparent until puberty. They tend to have large tumors that cause facial disfigurement, skeletal deformities such as scoliosis, and neurologic complications like learning disabilities, attention deficit disorders, and speech abnormalities.

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?

Accepted Answer

NF-1 is associated with increased risk of malignant neoplasm. The lesions may be painful to the client, and the disease is an autosomal dominant disorder. Photosensitivity is not noted as a complication of type 1 neurofibromatosis.

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?

Accepted Answer

Autosomal recessive disorders tend to have a more uniform symptomology than autosomal dominant disorders. Their incidence is dependent on both members of the gene pair being affected, and there is a one in four risk of an affected child with each pregnancy. The associated disorders are usually attributable to enzyme deficiencies.

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?

Accepted Answer

When the affected son procreates, he transmits the defective gene to all of his daughters, who become carriers of the mutant gene. The most common pattern of inheritance for fragile X syndrome is an unaffected mother carrying one normal and one mutant allele. The Y chromosome is not affected.

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?

Accepted Answer

Parents of a child with a multifactorial disorder have a higher chance of having the disorder recur with another child. Multifactorial disorders are less predictable than single-gene disorders and usually involve single organs. They can manifest themselves at any point in the life span.

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?

Accepted Answer

In centric fusion or robertsonian translocation, the break occurs near the centromere affecting the short arm in one chromosome (13 and 14 or 14 and 21 most commonly). The short fragment is usually lost during subsequent divisions. In this case, the person has only 45 chromosomes, but the amount of genetic material lost is small. Difficulty arises during meiosis. The chief clinical significance arises when the translocation carriers involve chromosome 21, which may produce a child with Down syndrome.

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?

Accepted Answer

Congenital heart defects are associated with Down syndrome. Hepatomegaly, visual disturbances, and diabetes are not associated with Down syndrome.

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?

Accepted Answer

Because of the association between congential heart defects and Turner syndrome, an echocardiogram would most likely yield useful results. Turner syndrome is not associated with brain, skeletal, or liver involvement, and these tests would be less likely to provide useful insight.

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.

Accepted Answer

Klinefelter syndrome is characterized by breast enlargement, sparse facial and body hair, small testes, and inability to produce sperm. At puberty, testes do not respond to stimulation from gonadotropins and undergo degeneration. This leads to a tall stature with abnormal body proportions. Although the intellect usually is normal, most 47, XXY males have some language impairment.

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?

Accepted Answer

The period between days 15 and 60 is the most susceptible time during development. Vitamin A, not D, poses a particular risk, and only 2% to 3% of anomalies are attributable to drug and environmental factors. It is not necessary to categorically avoid medication but rather to use caution and heed FDA guidelines.

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.

Accepted Answer

Several medications have been considered teratogenic. They include thalidomide, antimetabolites, warfarin, anticonvulsants, ethyl alcohol, cocaine, propyulthiouracil, tetracycline, and Accutane.

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?

Accepted Answer

The infant's signs and symptoms are characteristic of fetal alcohol syndrome. Folic acid deficiency is associated with neural tube defects, such as anencephaly and spina bifida. Cocaine use is associated with some of the same signs and symptoms as alcohol use but does not produce the characteristic facial abnormalities of fetal alcohol syndrome.
Herpes simplex infection, although it is associated with microcephaly, hydrocephalus, defects of the eye, and hearing problems, also does not produce characteristic facial abnormalities.

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?

Accepted Answer

Herpes is among the microorganisms most commonly responsible for fetal anomalies. Syphilis and tuberculosis infections are also implicated but to a lesser degree. The other listed diagnoses are not noted to be associated with fetal anomalies.

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.

Accepted Answer

Rubella remains endemic in many developing countries, however, where it is the major preventable cause of hearing impairment, blindness, and adverse neurodevelopmental outcomes. Facial deformities are common with fetal alcohol exposure. Short,flipper-like appendages are usually a result of thalidomide. Small outbreak of blisters around the infant's eyes and mouth may be related to early development of herpes simplex.

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?

Accepted Answer

Prenatal screening provides a useful, but incomplete, picture of fetal health; umbilical sampling and amniocentesis are common methods of screening. Fetal tissue biopsy is a rarely used screening method, and a couple need not belong to a high-risk group to benefit from prenatal screening. Abnormalities do not usually necessitate termination.

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.

Accepted Answer

PUBS is an invasive diagnostic procedure that involves the transcutaneous insertion of a needle through the uterine wall and into the umbilical artery. It is performed under ultrasound guidance and can be done any time after 16 weeks of gestation.Amniocentesis is the withdrawal of a sample of amniotic fluid for abnormal fetal screening as well as for chromosomal analysis. In chorionic villus sampling, the transcervical approach may be used (answer B).

Quiz 5: Genetic and Congenital Disorders