Vertebral fusion in a patient with supernumerary-der(22)t(11;22) syndrome

Am J Med Genet A. 2009 Aug;149A(8):1722-6. doi: 10.1002/ajmg.a.32762.

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.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Child, Preschool
  • Chromosomes, Human, Pair 11 / genetics*
  • Chromosomes, Human, Pair 22 / genetics*
  • Comparative Genomic Hybridization
  • Female
  • Humans
  • Infant
  • Limb Deformities, Congenital / complications
  • Limb Deformities, Congenital / diagnostic imaging
  • Male
  • Radiography
  • Spinal Diseases / complications
  • Spinal Diseases / diagnostic imaging
  • Spinal Diseases / genetics*
  • Spinal Fusion*
  • Syndrome
  • Translocation, Genetic*