title: Rearrangements of chromosome 18 illustrate the utility of array-based comparative genomic hybridization.
abstract: Comprehensive and reliable testing is an important component of counseling and management in clinical genetics. Identification of imbalances of chromosomal segments has uncovered new genes and has established phenotype/genotype correlations for many syndromes with previously unidentified causes. Conventional cytogenetics has proven to be useful for the detection of large aberrations, but its resolution limits the identification of submicroscopic alterations. Comparative genomic hybridization (CGH) on a microarray-based platform has the potential to detect and characterize both microscopic and submicroscopic chromosomal abnormalities. Nine cases of aberrations involving chromosome 18 are used to illustrate the use and clinical potential of array CGH.
authors.affiliation: Signature Genomic Laboratories, Spokane, WA, USA.
authors.forename: C D
authors.initials: CD
authors.lastname: Kashork
authors.forename: A
authors.initials: A
authors.lastname: Theisen
authors.forename: B A
authors.initials: BA
authors.lastname: Bejjani
authors.forename: L G
authors.initials: LG
authors.lastname: Shaffer
mesh_terms: D002648:Child; D022202:Chromosomes, Artificial, Bacterial; D002887:Chromosomes, Human, Pair 18; D000013:Congenital Abnormalities / Q000235:genetics; D015321:Gene Rearrangement; D030342:Genetic Diseases, Inborn / Q000145:classification / Q000235:genetics*; D006801:Humans; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods*; D012016:Reference Values