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

Maja Hempel1, Nuria Rivera Brugués, Janine Wagenstaller

  • 1Institute of Human Genetics, Technische Universität München, Munich, Germany.

American Journal of Medical Genetics. Part A
|August 14, 2009
PubMed

Insights

This study details a microdeletion 16p11.2-p12.2 case, characterized by facial anomalies, feeding issues, and speech delay. It highlights the need to differentiate this syndrome from other 16p11.2 deletions.

Area of Science:

  • Genetics
  • Human Molecular Genetics
  • Clinical Genetics

Background:

  • The pericentromeric region of chromosome 16p is prone to chromosomal rearrangements.
  • Several patients with rearrangements in this region have been previously documented.

Observation:

  • A new patient with a microdeletion 16p11.2-p12.2 is presented.
  • Common symptoms include minor facial anomalies, feeding difficulties, speech delay, and recurrent ear infections.

Findings:

  • All reported patients share a distal breakpoint at 16p12.2, with variations in the proximal breakpoint at 16p11.2.
  • The microdeletion 16p11.2-p12.2 is distinct from a 500 kb microdeletion at 16p11.2 associated with autism.

Implications:

  • Accurate diagnosis of microdeletion 16p11.2-p12.2 is crucial for appropriate patient management.
  • Distinguishing between different 16p11.2 deletions is important for understanding genotype-phenotype correlations.

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