Three case reports of patients indicating the diversity of molecular and clinical features of 16p11.2 microdeletion anomaly.

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This case report describes three children with 16p11.2 microdeletion syndrome who each showed very different symptoms—including developmental delays, obesity, epilepsy, heart and lung issues, and facial differences—highlighting that the same genetic deletion can affect children in unique ways and underscoring the importance of an interdisciplinary care team.