Clinical utility of array comparative genomic hybridization: uncovering tumor susceptibility in individuals with developmental delay

J Pediatr. 2009 Jan;154(1):143-6. doi: 10.1016/j.jpeds.2008.07.045.

Abstract

Microarray-based comparative genomic hybridization can determine genome-wide copy number alterations at the kilobase level. We highlight the clinical utility of microarray-based comparative genomic hybridization in determining tumor susceptibility in 3 patients with dysmorphic features and developmental delay, likely decreasing both morbidity and mortality in these patients.

Publication types

  • Case Reports

MeSH terms

  • AMP-Activated Protein Kinase Kinases
  • Child
  • Child, Preschool
  • Comparative Genomic Hybridization*
  • Developmental Disabilities / epidemiology*
  • Genes, p53 / genetics
  • Genetic Predisposition to Disease / epidemiology*
  • Humans
  • Infant
  • Li-Fraumeni Syndrome / epidemiology*
  • Li-Fraumeni Syndrome / genetics*
  • Oligonucleotide Array Sequence Analysis
  • Peutz-Jeghers Syndrome / epidemiology*
  • Peutz-Jeghers Syndrome / genetics*
  • Protein Serine-Threonine Kinases / genetics

Substances

  • Protein Serine-Threonine Kinases
  • STK11 protein, human
  • AMP-Activated Protein Kinase Kinases