title: Incidental detection of cancer predisposition gene copy number variations by array comparative genomic hybridization.
abstract: We describe 2 pediatric patients who presented to medical genetics clinic for evaluation and were incidentally found via array comparative genomic hybridization to have pathogenic copy number variations of cancer predisposition genes. We subsequently reviewed 3554 previous array comparative genomic hybridization results to estimate the frequency of similar incidental findings.
authors.affiliation: Department of Genetics, University of Alabama at Birmingham, Birmingham, AL.
authors.forename: J Austin
authors.initials: JA
authors.lastname: Hamm
authors.affiliation: Department of Genetics, University of Alabama at Birmingham, Birmingham, AL.
authors.forename: Fady M
authors.initials: FM
authors.lastname: Mikhail
authors.affiliation: Department of Genetics, University of Alabama at Birmingham, Birmingham, AL.
authors.forename: Dana
authors.initials: D
authors.lastname: Hollenbeck
authors.affiliation: Department of Genetics, University of Alabama at Birmingham, Birmingham, AL.
authors.forename: Meagan
authors.initials: M
authors.lastname: Farmer
authors.affiliation: Department of Genetics, University of Alabama at Birmingham, Birmingham, AL; Department of Pediatrics, University of Alabama at Birmingham, Birmingham, AL; Department of Otolarnygology, University of Alabama at Birmingham, Birmingham, AL. Electronic address: nrobin@uab.edu.
authors.forename: Nathaniel H
authors.initials: NH
authors.lastname: Robin
mesh_terms: D002648:Child; D055028:Comparative Genomic Hybridization / Q000379:methods*; D056915:DNA Copy Number Variations; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D033162:Incidental Findings; D007223:Infant; D009369:Neoplasms / Q000235:genetics*; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods