16p11.2 rearrangements

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