16p11.2 Microduplication Syndrome with Increased Fluid in the Cisterna: Coincidence or Phenotype Extension?

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This study reports a child with 16p11.2 duplication who was found to have extra fluid at the back of the brain on MRI, suggesting that while this brain finding may be rare or even coincidental, families can use this information to inform discussions with their care team about brain imaging results and understand that 16p11.2 features can vary widely and new associations are still being identified.