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Neuroimaging findings in children with rare or novel de novo chromosomal anomalies
Journal article   Peer reviewed

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, …
Birth defects research. A Clinical and molecular teratology, Vol.82(4), pp.200-210
04/2008
DOI: 10.1002/bdra.20443
PMID: 18302267

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Abstract

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.
Nucleic Acid Hybridization Phenotype Radiography Genetic Testing Oligonucleotide Array Sequence Analysis Humans Genotype Male Gene Expression Profiling Chromosomes, Human, Pair 6 Nervous System Diseases - genetics Chromosomes, Human, Pair 7 Diagnostic Imaging Chromosomes, Human, Pair 17 Chromosomes, Human, Pair 18 Karyotyping Chromosome Aberrations Chromosomes, Human, Pair 16 Female Retrospective Studies Child Nervous System Diseases - diagnostic imaging

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