Exam 5: Genetic and Congenital Disorders

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 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?

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.

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?

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?

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 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?

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 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?

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

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 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 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?

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.

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?

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?

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 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 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?

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?