Test Bank for Porth’s Essentials of Pathophysiology 5e by Norris

Test Bank for Porth’s Essentials of Pathophysiology 5e by Norris Test Bank for Porth’s Essentials of Pathophysiology 5e by Norris Test Bank for Porth’s Essentials of Pathophysiology 5e by Norris Chapter 05: Genetic and Congenital Disorders 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. Ans: C Feedback: 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. 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.” Ans: D Feedback: 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. 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 Test Bank - Porth's Essentials of Pathophysiology (5th Edition by Norris) C) Tests of kidney function D) Cardiovascular assessment Ans: C Feedback: 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. 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 Ans: B Feedback: 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.