Increased incidence and size of cavum septum pellucidum in children with chromosome 22q11.2 deletion syndrome

Elliott A. Beaton, Yufeng Qin, Vy Nguyen, Joel Johnson, Joseph D. Pinter, Tony J. Simon

Research output: Contribution to journalArticlepeer-review

27 Scopus citations


Chromosome 22q11.2 deletion syndrome (22q11.2DS) is a result of a hemizygotic microdeletion that results in a variety of impairments in children including greater risk for psychiatric ailments in adulthood. We used high-resolution magnetic resonance imaging to accurately quantify the length and, for the first time, volume, of the cavum septum pellucidum (CSP) in children aged 7 to 14 years with 22q11.2DS and typically developing (TD) controls. Significantly greater anteroposterior length and greater CSP volumes were found in children with 22q11.2DS compared with controls. Furthermore, the largest CSP were found only in the 22q11.2DS group and with a much higher incidence than previously reported in the literature. Given the significant midline anomalies in the brains of those affected by 22q11.2DS, large CSP may be a biomarker of atypical brain development. The implication of these larger CSP for cognitive and behavioral development is a topic in need of further investigation.

Original languageEnglish (US)
Pages (from-to)108-113
Number of pages6
JournalPsychiatry Research - Neuroimaging
Issue number2
StatePublished - Feb 28 2010


  • Brain volumetric methods
  • DiGeorge syndrome
  • Genetic disorder
  • Pediatric neuroimaging
  • Velocardiofacial syndrome (VCFS)

ASJC Scopus subject areas

  • Neuroscience (miscellaneous)
  • Radiology Nuclear Medicine and imaging
  • Psychiatry and Mental health


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