A 3-year-old girl is brought to the physician by her parents because of unsteady and difficulty walking. She began to walk at 12 months and continues to have difficulty standing still without support. She also appears to have difficulty grabbing objects in front of her. Medical history is significant for recurrent ear and pulmonary infections. Vital signs are normal. Physical examination reveals numerous superficial nests of distended capillaries on the face and ears that blanch with pressure. This patient's condition is most likely due to a genetic defect affecting which of the following processes?

Question

A 3-year-old girl is brought to the physician by her parents because of unsteady and difficulty walking. She began to walk at 12 months and continues to have difficulty standing still without support. She also appears to have difficulty grabbing objects in front of her.   Medical history is significant for recurrent ear and pulmonary infections. Vital signs are normal.  Physical examination reveals numerous superficial nests of distended capillaries on the face and ears that blanch with pressure.  This patient's condition is most likely due to a genetic defect affecting which of the following processes?

Quizplus · Accepted Answer

Eductional Objective: Ataxia-telangiectasia is an autosomal recessive disorder resulting from defective DNA break repair.  Classic findings include cerebellar ataxia, telangiectasias, and recurrent sinopulmonary infections.

A 3-Year-Old Girl Is Brought to the Physician by Her