Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2

Nat Genet. 2007 Sep;39(9):1071-3. doi: 10.1038/ng2107. Epub 2007 Aug 19.


We have identified a recurrent de novo pericentromeric deletion in 16p11.2-p12.2 in four individuals with developmental disabilities by microarray-based comparative genomic hybridization analysis. The identification of common clinical features in these four individuals along with the characterization of complex segmental duplications flanking the deletion regions suggests that nonallelic homologous recombination mediated these rearrangements and that deletions in 16p11.2-p12.2 constitute a previously undescribed syndrome.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Child
  • Child, Preschool
  • Chromosome Aberrations
  • Chromosome Deletion*
  • Chromosome Disorders / genetics
  • Chromosome Disorders / pathology
  • Chromosomes, Human, Pair 16 / genetics*
  • Female
  • Genome, Human
  • Humans
  • In Situ Hybridization, Fluorescence
  • Nucleic Acid Hybridization / methods
  • Syndrome