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Repeated USMLE Questions Step 1- 371



Q- A newborn infant presents with cleft palate and hypocalcemia. Genetic testing of the blood shows 22q 11.2 deletion. Which of the following is the most likely diagnosis?

A- DiGeorge Syndrome

B- Down syndrome

C- Stickler syndrome

D- Turner’s syndrome

A- DiGeorge Syndrome- is the only one of the list that has this deletion and characterized by cleft palate, hypoparathyroidism and low CD4.



Q- A college student is brought to the ER for fever and agitation. Examination reveals high temperature, tachycardia, constricted pupils and horizontal nystagmus. Which of the following is the responsible substance?

A- Alcohol

B- Cocaine

C- Lysergic acid diethylamide

D- Phencyclidine

D- Phencyclidine- It is the only one that presents with agitation and the above eye manifestations.



Q- Which of the following in the mode of inheritance of glucose-6-phosphate dehydrogenase deficiency?

A- Autosomal dominant

B- Autosomal recessive

C- X-linked dominant

D- X-linked recessive

D- X-linked recessive- It leads to hemolytic anemia after taking certain food and medications.



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