Document Detail

Neuroimaging findings in children with rare or novel de novo chromosomal anomalies.
MedLine Citation:
PMID:  18302267     Owner:  NLM     Status:  MEDLINE    
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.
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
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Birth defects research. Part A, Clinical and molecular teratology     Volume:  82     ISSN:  1542-0760     ISO Abbreviation:  Birth Defects Res. Part A Clin. Mol. Teratol.     Publication Date:  2008 Apr 
Date Detail:
Created Date:  2008-04-28     Completed Date:  2008-07-02     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  101155107     Medline TA:  Birth Defects Res A Clin Mol Teratol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  200-10     Citation Subset:  IM    
Copyright Information:
(c) 2008 Wiley-Liss, Inc.
Northwestern University's Feinberg School of Medicine, Department of Pediatrics, Chicago, Illinois 60611, USA.
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MeSH Terms
Chromosome Aberrations*
Chromosomes, Human, Pair 16
Chromosomes, Human, Pair 17
Chromosomes, Human, Pair 18
Chromosomes, Human, Pair 6
Chromosomes, Human, Pair 7
Diagnostic Imaging
Gene Expression Profiling
Genetic Testing
Nervous System Diseases / genetics*,  radiography*
Nucleic Acid Hybridization
Oligonucleotide Array Sequence Analysis
Retrospective Studies

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