Pathophysiology Exam 1

Pathophysiology Exam 1 An ordered photographic display of a set of chromosomes from a single cell is a(n): A) metaphase spread. B) autosomal spread. C) karyotype. D) anaphase spread. - Answer- c An error in which homologous chromosomes fail to separate during meiosis is termed: A) aneuploidy. B) nondisjunction. C) polyploidy. D) anaplasia. - Answer- b A somatic cell that does not contain a multiple of 23 chromosomes is called: A) an aneuploid cell. B) a euploid cell. C) a polyploidy cell. D) a haploid cell. - Answer- a A 20-year-old pregnant female gives birth to a stillborn child. Autopsy reveals that the fetus has 92 chromosomes. Which of the following describes this condition? A) Euploidy B) Triploidy C) Tetraploidy D) Aneuploidy - Answer- c If a person is a chromosomal mosaic, the person may: A) be a carrier of the genetic disease. B) have a mild form of the genetic disease. C) have two genetic diseases. D) be sterile as a result of the genetic disease. - Answer- b The most common cause of Down syndrome is: A) paternal nondisjunction. B) maternal translocations. C) maternal nondisjunction. D) paternal translocations. - Answer- c Risk factors for Down syndrome include: A) fetal exposure to mutagens in the uterus. B) increased paternal age. C) family history of Down syndrome. D) pregnancy in women over age 35. - Answer- d A 13-year-old girl has a karyotype that reveals an absent homologous X chromosome with only a single X chromosome present. Her condition is called: A) Down syndrome. B) Cri du chat syndrome. C) Turner syndrome. D) Edward syndrome - Answer- c A child is diagnosed with cystic fibrosis. History reveals that the child's parents are first cousins. Cystic fibrosis was most likely the result of: A) X inactivation. B) genomic imprinting. C) consanguinity. D) obligate carriers. - Answer- c Joey, age 9, is admitted to a pediatric unit with Duchenne muscular dystrophy. He inherited this condition through a: A) sex-linked dominant trait. B) sex-influenced trait. C) sex-limited trait. D) sex-linked recessive trait. - Answer- d A 50-year-old male was recently diagnosed with Huntington disease. Transmission of this disease is associated with: A) penetrance. B) recurrence risk. C) expressivity. D) delayed age of onset. - Answer- d People who have neurofibromatosis will show varying degrees of the disease; this is because of the genetic principle of: A) penetrance. B) expressivity. C) dominance. D) recessiveness. - Answer- b Cystic fibrosis is caused by an _____ gene. A) X-linked dominant B) X-linked recessive C) autosomal dominant D) autosomal recessive - Answer- d To express a polygenic trait: A) genes must interact with the environment. B) several genes must act together. C) multiple mutations must occur in the same family. D) in situ cloning must occur. - Answer- b