Neuroimaging findings in children with rare or novel de novo chromosomal anomalies

Leon G. Epstein, Ali Jalali, Ajit N. Chary, Sophia Khan, Joshua Ross, Justine Coppinger, Katrin Carlson, Joel Charrow, Barbara Burton, Donald Zimmerman, John Curran, Francine Kim, Pam Nguyen, Delilah Burrowes, Brad Angle, Cynthia Stack, Lisa Shaffer, John A. Kessler, Alexander G. Bassuk

Research output: Contribution to journalArticlepeer-review

1 Scopus citations


BACKGROUND: De novo constitutional chromosomal anomalies provide important insights into the genetic loci responsible for congenital neurological disorders. However, most phenotypic descriptions of patients with rare chromosomal abnormalities are published as individual case reports or small group studies, making genotype-phenotype correlations unclear. Moreover, many clinical genetic reports do not include neuroimaging. METHODS: We conducted a retrospective case series study of all children who had genetic testing done at Children's Memorial Hospital in Chicago, Illinois between 1985 and 2006. The case series was selected from a database containing all chromosomal testing results, clinical data, and neuroimaging. Clinical examination results were assigned by board certified geneticists and/or neurologists and neuroimages were reviewed by both a neurologist or neuroradiologist and a blinded neurologist. RESULTS: Of the 28,108 children in the series, we identified 34 children with novel or apparently novel de novo chromosomal abnormalities. Several of the cases represent potentially new genetic loci for neurological malformations and novel syndromic conditions. CONCLUSIONS: This study demonstrates the utility of large clinical databases in assessing genotype-phenotype correlations and mapping loci for congenital neurological disorders. We describe a case-series strategy to analyze existing databases to reveal new genotype-phenotype correlations.

Original languageEnglish (US)
Pages (from-to)200-210
Number of pages11
JournalBirth Defects Research Part A - Clinical and Molecular Teratology
Issue number4
StatePublished - Apr 2008


  • Chromosomes
  • Comparative genomic hybridization
  • Microarray

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Embryology
  • Developmental Biology


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