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Scoliosis and vertebral anomalies: additional abnormal phenotypes associated with chromosome 16p11.2 rearrangement.

Proximal Deletion, Proximal Duplication,

All,

This study found that children with the proximal 16p11.2 deletion or duplication may have a higher chance of developing scoliosis (curved spine) and other vertebral (spine bone) abnormalities, suggesting families and doctors should watch for these physical issues in addition to the more well-known developmental concerns.

Skeletal,