Down syndrome (Trisomy 21) Quiz: Ace Your Exams
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A 3-year-old girl is evaluated in the office for developmental delay. Over the past year, she has been receiving physical therapy for delays in gross motor skills. She was born to a 40-year-old woman who declined prenatal testing. The rest of the systemic review is unremarkable. Family history is noncontributory. Vitals are within normal limits. Physical examination shows a round dysmorphic face with upslanting palpebral fissures, a furrowed tongue and abnormal palmar creases. Auscultation reveals a fixed S2 and a 2/6 systolic ejection murmur at the lower left sternal border. Which of the following is the most likely underlying mechanism for this patient’s condition?
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