Clinical utility of array comparative genomic hybridization: uncovering tumor susceptibility in individuals with developmental delay.
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.
Adam
Margaret P
MP
Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA. madam@genetics.emory.edu
Justice
April N
AN
Schelley
Susan
S
Kwan
Andrea
A
Hudgins
Louanne
L
Martin
Christa L
CL
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
D017346:Protein Serine-Threonine Kinases; C109790:STK11 protein, human; D000091162:AMP-Activated Protein Kinase Kinases