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16p11.2 rearrangements

Saturday 30 October 2010

16p11.2 rearrangements

Synopsis

- developmental delay
- cognitive impairment
- autism spectrum disorder
- behavioral problems (especially attention-deficit hyperactivity disorder)
- seizures
- obesity
- dysmorphic features
- abnormal head size
- language delay
- learning disabilities
- autism
- academic deficits
- behavioral problems
- long cervicothoracic syringomyelia
- long thoracolumbar syringomyelia
- syringomyelia associated with Chiari malformation

Cytogenetics

- 16p11.2 deletion
- 16p11.2 reciprocal duplication

Physiopathology

Genes (or a single gene) within the implicated interval have significant roles in the pathogenesis of syringomyelia.

References

- Expanding the clinical spectrum of the 16p11.2 chromosomal rearrangements: three patients with syringomyelia. Schaaf CP, Goin-Kochel RP, Nowell KP, Hunter JV, Aleck KA, Cox S, Patel A, Bacino CA, Shinawi M. Eur J Hum Genet. 2010 Oct 20. PMID: 20959866