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Incidental detection of cancer predisposition gene copy number variations by array comparative genomic hybridization.
Hamm, J Austin; Mikhail, Fady M; Hollenbeck, Dana; Farmer, Meagan; Robin, Nathaniel H.
Afiliação
  • Hamm JA; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL.
  • Mikhail FM; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL.
  • Hollenbeck D; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL.
  • Farmer M; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL.
  • Robin NH; 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.
J Pediatr ; 165(5): 1057-9.e1-4, 2014 Nov.
Article em En | MEDLINE | ID: mdl-25201531
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.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Predisposição Genética para Doença / Hibridização Genômica Comparativa / Variações do Número de Cópias de DNA / Neoplasias Tipo de estudo: Diagnostic_studies Limite: Child / Female / Humans / Infant Idioma: En Revista: J Pediatr Ano de publicação: 2014 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Predisposição Genética para Doença / Hibridização Genômica Comparativa / Variações do Número de Cópias de DNA / Neoplasias Tipo de estudo: Diagnostic_studies Limite: Child / Female / Humans / Infant Idioma: En Revista: J Pediatr Ano de publicação: 2014 Tipo de documento: Article