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

Maja Hempel, Nuria Rivera Brugués, Janine Wagenstaller, Gaby Lederer, Andrea Weitensteiner, Heide Seidel, Thomas Meitinger, Tim M. Strom

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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 acommon 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 ∼500 kb microdeletion in 16p11.2 which seems to be associated with autism but not with facial manifestations, feeding difficulties, or developmental delay.

Original languageEnglish
Pages (from-to)2106-2112
Number of pages7
JournalAmerican Journal of Medical Genetics, Part A
Issue number10
StatePublished - Oct 2009


  • 16p11.2-p12.2
  • Ear infection
  • Facial manifestation
  • Feeding problems
  • Microdeletion
  • SNP oligonucleotide array
  • Speech delay


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