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Keywords:

  • supernumerary-der(22)t(11;22) syndrome;
  • Emanuel syndrome;
  • congenital vertebral fusion;
  • TBX1

Abstract

A patient with a 47,XX,+der(22)t(11;22)(q23.3;q11.2) karyotype exhibited brisk tendon reflex and Babinski sign with suggested pyramidal sign. A three-dimensional computed tomographic reconstruction revealed a T1-T2 vertebral fusion without hemivertebrae. Sagittal magnetic resonance imaging revealed degenerative disk changes, mild disk herniation, and mild spinal cord compression. Congenital vertebral fusion may be one of the anomalies in supernumerary-der(22)t(11;22) syndrome. Once clinical diagnosis of this chromosome aberration is established, radiologic evaluation of vertebrae and spinal neuroimaging should be performed. © 2009 Wiley-Liss, Inc.