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Microdeletion syndrome 16p11.2-p12.2: clinical and molecular characterization.

Distal Deletion,

All,

This study describes a larger 16p11.2–p12.2 deletion (different from the more common 16p11.2 deletion linked to autism) and shows it is often associated with feeding difficulties, speech delays, recurrent ear infections, and mild facial differences, which families can use to guide medical monitoring (especially hearing/ENT care), early speech‑language therapy, and accurate diagnosis so the right supports are put in place early.

Genetics, HNS,