MCQ Book Questions

Q60162. Which of the following best describes the pathogenesis of mental retardation in the patient described in Question 14?

Q60163. A 4-year-old boy is found to have extremely pliable skin. His parents note that he bruises easily. His joints can be hyperextended. Biochemical studies demonstrate a defi ciency of lysyl hydroxylase. Ultrastructural examination of a skin biopsy of this patient would most likely reveal abnormalities associated with which of the following cell/ tissue components?

Q60164. The genetic disease encountered in the patient described in Question 7 follows which of the following patterns of inheritance?

Q60165. A 12-month-old boy shows progressive weakness, mental deterioration, and loss of vision. Laboratory studies demonstrate decreased activity of hexosaminidase A. The child eventually becomes blind and dies at 3 years of age. Which of the following best describes the pathogenesis of neuronal degeneration in this patient?

Q60166. If the parents of the child described in Question 9 have a total of four sons and two daughters, then, on average, how many of their children may be expected to be asymptomatic (i.e., silent) carriers of this gene mutation?

Q60167. The parents of an infant with cleft lip and palate (infant shown in the image) visit a genetic counselor to discuss the chance that a similar birth defect will occur in their future offspring. In addition to teratogen exposure and multifactorial inheritance, which of the following is an important cause of this error of morphogenesis?

Q60168. A 4-year-old boy is brought to the physician by his parents because he tires easily. Physical examination reveals weakness in the pelvic and shoulder girdles and enlargement of the child’s calf muscle. Serum levels of creatine kinase are elevated. A biopsy of calf muscle shows marked variation in size and shape of muscle fi bers. There are foci of muscle fi ber necrosis, with myophagocytosis, regenerating fi bers, and fi brosis. Molecular diagnostic assays would most likely show alterations in the length of the primary transcript for which of the following muscle-associated proteins?

Q60169. What will be the likely cause of death in the patient described in Question 21?

Q60170. A 22-year-old man complains about his inability to conceive a child. On physical examination, the patient is noted to be tall

Q60171. A 25-year-old woman complains of recurrent bone pain and increasing abdominal girth. Physical examination reveals massive hepatosplenomegaly. Radiologic studies reveal several radiolucent bone defects. A bone marrow biopsy discloses enlarged cells with a fi brillar appearance reminiscent of “wrinkled tissue paper.” Microscopic examination of a splenectomy specimen is shown. This patient most likely carries mutations in the gene that encodes which of the following types of hydrolytic enzymes?

Q60172. Which of the following best describes the pathogenesis of hepatosplenomegaly and bone pain in the patient described in Question 17?

Q60173. A neonate is born with severe motor dysfunction involving the lower extremities. Radiologic studies show that vertebral bodies in the lumbar region lack posterior arches. The vertebral defects are covered by a thin membrane. The space underneath the membrane contains a mass of tissue that is composed of meninges and spinal cord. The parents ask for information regarding risks for similar birth defects in their future offspring. You mention that dietary supplementation of the maternal diet has been shown to reduce the incidence of neural tube defects. What is this substance?

Q60174. A 34-year-old woman in her second pregnancy delivers a female neonate with severe generalized edema and jaundice. A CBC of the neonate shows hemolytic anemia. Subsequent workup of the mother and the newborn reveal an Rh-incompatibility. Transplacental passage of which of the following proteins is the principal cause of anasarca and jaundice in this neonate?

Q60175. The parents of a 2-year-old boy with hyposadias (urethra opens on the ventral aspect of the penis) visit a genetic counselor to discuss the chances that a similar birth defect will occur in their future offspring. This birth defect shows which of the following patterns of inheritance?

Q60176. A 42-year-old woman gives birth to a neonate with multiple congenital abnormalities. Physical fi ndings included a fl at facial profi le, slanted eyes, epicanthal folds, Brushfi eld spots, short nose, short neck, dysplastic ears, clinodactyly, a large protruding tongue, and a pronounced heart murmur. What is the most common cause of this developmental birth disease?

Q60177. As an adult, the brain of the patient described in Question 29 will show histopathologic changes that are seen in patients with which of the following neurologic diseases?

Q60178. A 50-year-old man with a history of type 2 diabetes mellitus asks about the chances that his children will inherit this metabolic disorder. The patient is told that he has a genetic disease that shows which of the following patterns of inheritance?

Q60179. A 35-year-old pregnant woman delivers a baby prematurely at 28 weeks of gestation. Shortly after birth, the neonate becomes short of breath, with intercostal retraction and nasal fl aring during respiration. The neonate is placed on a ventilator, but dies of respiratory insuffi ciency and intraventricular hemorrhage. Microscopic examination of the lungs at autopsy is shown. The eosinophilic material lining the air spaces represents an accumulation of which of the following proteins?

Q60180. If the neonate described in Question 24 had survived, which of the following would be the most likely complication related to anoxia and acidosis?

Q60181. An 87-year-old woman dies peacefully in her sleep. At autopsy, a rest of pancreatic tissue is identifi ed in the wall of the lower esophagus. This fi nding represents an example of which of the following congenital tumor-like conditions?