Exam: Genetic Disorders in Paediatrics Complete Guide to Aneuploidies Down Syndrome Turner Syndrome Microdeletion and Imprinting Disorders
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A 2-day-old newborn has hypotonia, flat facial profile, epicanthal folds, and a single palmar crease. Echocardiography reveals an atrioventricular septal defect. Which chromosomal abnormality is most likely responsible?