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

Genet Mol Res. 2012 Sep 3;11(3):3133-7. doi: 10.4238/2012.September.3.1.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 13 / genetics*
  • Chromosomes, Human, Pair 16 / genetics*
  • Developmental Disabilities / complications*
  • Developmental Disabilities / genetics*
  • Genetic Predisposition to Disease
  • Growth Disorders / complications*
  • Growth Disorders / genetics*
  • Humans
  • Male