Septo-optic dysplasia and dentato-olivary dysplasia in a case of 18q deletion/3p trisomy

V. Singh, C. P. Boesel, P. Baker

Research output: Contribution to journalArticlepeer-review

4 Scopus citations

Abstract

The brain of an 18q deletion/3p trisomy patient is described. The findings revealed septo-optic dysplasia, dentato-olivary dysplasia, deficiency of myelination and disordered neuronal migration. Many of these pathological changes overlap the findings previously described in 18q deletion. An understanding of the pathological changes in the brain of these individuals provides the basis for therapeutic management of their symptoms.

Original languageEnglish (US)
Pages (from-to)28-33
Number of pages6
JournalClinical Neuropathology
Volume23
Issue number1
StatePublished - Jan 2004
Externally publishedYes

Keywords

  • 18q deletion
  • 3p trisomy
  • Dentato-olivary dysplasia
  • Hypopituitarism
  • Septo-optic dysplasia

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Neurology
  • Clinical Neurology

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