title: Clinical utility of array comparative genomic hybridization: uncovering tumor susceptibility in individuals with developmental delay.
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.
authors.affiliation: Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA. madam@genetics.emory.edu
authors.forename: Margaret P
authors.initials: MP
authors.lastname: Adam
authors.forename: April N
authors.initials: AN
authors.lastname: Justice
authors.forename: Susan
authors.initials: S
authors.lastname: Schelley
authors.forename: Andrea
authors.initials: A
authors.lastname: Kwan
authors.forename: Louanne
authors.initials: L
authors.lastname: Hudgins
authors.forename: Christa L
authors.initials: CL
authors.lastname: Martin
mesh_terms: D000091162:AMP-Activated Protein Kinase Kinases; D002648:Child; D002675:Child, Preschool; D055028:Comparative Genomic Hybridization; D002658:Developmental Disabilities / Q000453:epidemiology*; D016158:Genes, p53 / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000453:epidemiology*; D006801:Humans; D007223:Infant; D016864:Li-Fraumeni Syndrome / Q000453:epidemiology* / Q000235:genetics*; D020411:Oligonucleotide Array Sequence Analysis; D010580:Peutz-Jeghers Syndrome / Q000453:epidemiology* / Q000235:genetics*; D017346:Protein Serine-Threonine Kinases / Q000235:genetics
chemical_list: D017346:Protein Serine-Threonine Kinases; C109790:STK11 protein, human; D000091162:AMP-Activated Protein Kinase Kinases