Partial 6p trisomy with abnormal ABR and hypogenesis of the corpus callosum

Tohoku J Exp Med. 1995 Apr;175(4):279-84. doi: 10.1620/tjem.175.279.


A case of 4-month-old male infant with the karyotype 46,XY, -21, +der(21), t(6;21)(p22; p13) mat is reported. His cranial magnetic resonance imaging (MRI) suggested hypoplastic corpus callosum and auditory brain stem response (ABR) revealed brain stem dysfunction.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Corpus Callosum / pathology*
  • Evoked Potentials, Auditory, Brain Stem*
  • Gliosis / pathology
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Time Factors
  • Trisomy / diagnosis
  • Trisomy / genetics*