Prenatally diagnosed distal 16p11.2 microdeletion with a novel association with congenital diaphragmatic hernia: a case report

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This case report suggests that a distal 16p11.2 deletion may, in rare cases, be linked to congenital diaphragmatic hernia identified during pregnancy, helping families and clinicians understand that prenatal findings like diaphragm defects can sometimes be part of a distal 16p11.2 diagnosis and should prompt careful genetic counseling and coordinated prenatal and postnatal care planning.