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Chromosome microarray analysis of  patients with developmental delay has provided evidence of small deletions or  duplications associated with this clinical phenotype. In this context, a 7.1- to  8.7-Mb interstitial deletion of chromosome 16 is well documented, but within  this interval a rare 200-kb deletion has recently been defined that appears to  be associated with obesity, or developmental delay together with overgrowth. We  report a patient carrying this rare deletion, who falls into the latter  clinical category, but who also carries a second very rare deletion in 13q31.3.  It remains unclear if this maternally inherited deletion acts as a second copy  number variation leading to pathogenic variation, or is non-causal and the true  modifiers are yet to be determined.

Microdeletions in 16p11.2 and 13q31.3 associated with developmental delay and generalized overgrowth