Abstract
Absence of the corpus callosum is often associated with cognitive deficits, autism, and epilepsy. Using a genomic microarray, the authors analyzed DNA from 25 patients with radiographically confirmed callosal anomalies and identified three patients with de novo copy number changes in chromosome regions 2q37, 6qter, and 8p. Chromosomal deletions and duplications may be a relatively common cause of cerebral malformations.
Publication types
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Case Reports
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Research Support, N.I.H., Extramural
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Agenesis of Corpus Callosum*
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Child
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Child, Preschool
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Chromosome Deletion
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Chromosomes, Human, Pair 2 / genetics
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Chromosomes, Human, Pair 6 / genetics
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Chromosomes, Human, Pair 8 / genetics
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Corpus Callosum / physiopathology
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DNA / analysis
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DNA / genetics*
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DNA Mutational Analysis
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Female
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Gene Dosage
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Gene Duplication
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Genetic Predisposition to Disease / genetics*
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Genetic Testing
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Genomic Library
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Humans
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Male
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Mutation / genetics*
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Nervous System Malformations / complications
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Nervous System Malformations / genetics*
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Oligonucleotide Array Sequence Analysis
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Prospective Studies