title: Neuroimaging findings in children with rare or novel de novo chromosomal anomalies.
abstract: 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.
authors.affiliation: Northwestern University's Feinberg School of Medicine, Department of Pediatrics, Chicago, Illinois 60611, USA.
authors.forename: Leon G
authors.initials: LG
authors.lastname: Epstein
authors.forename: Ali
authors.initials: A
authors.lastname: Jalali
authors.forename: Ajit N
authors.initials: AN
authors.lastname: Chary
authors.forename: Sophia
authors.initials: S
authors.lastname: Khan
authors.forename: Joshua
authors.initials: J
authors.lastname: Ross
authors.forename: Justine
authors.initials: J
authors.lastname: Coppinger
authors.forename: Katrin
authors.initials: K
authors.lastname: Carlson
authors.forename: Joel
authors.initials: J
authors.lastname: Charrow
authors.forename: Barbara
authors.initials: B
authors.lastname: Burton
authors.forename: Donald
authors.initials: D
authors.lastname: Zimmerman
authors.forename: John
authors.initials: J
authors.lastname: Curran
authors.forename: Francine
authors.initials: F
authors.lastname: Kim
authors.forename: Pam
authors.initials: P
authors.lastname: Nguyen
authors.forename: Delilah
authors.initials: D
authors.lastname: Burrowes
authors.forename: Brad
authors.initials: B
authors.lastname: Angle
authors.forename: Cynthia
authors.initials: C
authors.lastname: Stack
authors.forename: Lisa
authors.initials: L
authors.lastname: Shaffer
authors.forename: John A
authors.initials: JA
authors.lastname: Kessler
authors.forename: Alexander G
authors.initials: AG
authors.lastname: Bassuk
mesh_terms: D002648:Child; D002869:Chromosome Aberrations; D002885:Chromosomes, Human, Pair 16; D002886:Chromosomes, Human, Pair 17; D002887:Chromosomes, Human, Pair 18; D002896:Chromosomes, Human, Pair 6; D002897:Chromosomes, Human, Pair 7; D003952:Diagnostic Imaging; D005260:Female; D020869:Gene Expression Profiling; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D007621:Karyotyping; D008297:Male; D009422:Nervous System Diseases / Q000000981:diagnostic imaging* / Q000235:genetics*; D009693:Nucleic Acid Hybridization; D020411:Oligonucleotide Array Sequence Analysis; D010641:Phenotype; D011859:Radiography; D012189:Retrospective Studies