Microdeletion syndrome 16p11.2-p12.2: clinical and molecular characterization

Am J Med Genet A. 2009 Oct;149A(10):2106-12. doi: 10.1002/ajmg.a.33042.

Abstract

The pericentromeric region on 16p appears to be susceptible to chromosomal rearrangements and several patients with rearrangements in this region have been described. We report on a further patient with a microdeletion 16p11.2-p12.2 in the context of described patients with a deletion in the pericentromeric region of 16p. Minor facial anomalies, feeding difficulties, significant delay in speech development, and recurrent ear infections are common symptoms of the microdeletion syndrome 16p11.2-p12.2. All reported patients so far share a common distal breakpoint at 16p12.2 but vary in the proximal breakpoint at 16p11.2. The microdeletion 16p11.2-p12.2 should be distinguished from the approximately 500 kb microdeletion in 16p11.2 which seems to be associated with autism but not with facial manifestations, feeding difficulties, or developmental delay.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adolescent
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 16*
  • Follow-Up Studies
  • Humans
  • Language Development Disorders / genetics*
  • Male
  • Otitis / complications
  • Otitis / genetics*
  • Syndrome