Home > Resources > Expanding the clinical spectrum of the 16p11.2 chromosomal rearrangements: three patients with syringomyelia.

Expanding the clinical spectrum of the 16p11.2 chromosomal rearrangements: three patients with syringomyelia.

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This study shows that, in addition to learning and developmental differences, some children with 16p11.2 deletions or duplications may also have rare spinal cord conditions like syringomyelia, highlighting the wide range of medical issues doctors may need to monitor in this genetic syndrome.

Skeletal, Syringomyelia,