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16p11.2 microdeletion syndrome: A case report

Distal Deletion, Proximal Deletion,

All,

This case report shows that children with a 16p11.2 microdeletion can present very differently—even within the same family—highlighting that some children may have feeding difficulties and poor growth instead of the more commonly expected weight gain, underscoring the wide range of outcomes and the importance of individualized monitoring and family genetic evaluation.

Education, Genetics, Immunology, Pathophysiology,