title: Chromosome analysis using spectral karyotyping (SKY).
abstract: Spectral karyotyping is a novel technique for chromosome analysis that has been developed based on the approach of the fluorescence in situ hybridization technique. Spectral karyotyping makes it feasible to diagnose a variety of diseases, because of its technology in painting each of the 24 human chromosomes with different colors. In recent years, it has become possible to adopt the usage of spectral karyotyping for research in general clinical practice, and its usability has attracted particular attention in the diagnosis of different diseases. In this review, we will explain the principle of the spectral karyotyping, as well as its specificity and limitation in detecting the genetic defects within clinical application by presenting two case reports.
authors.affiliation: Department of Pediatrics, Dokkyo Medical University, Shimotsuga, Tochigi, Japan. geo@dokkyomed.ac.jp
authors.forename: George
authors.initials: G
authors.lastname: Imataka
authors.forename: Osamu
authors.initials: O
authors.lastname: Arisaka
mesh_terms: D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000235:genetics; D002875:Chromosomes / Q000235:genetics*; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics; D006801:Humans; D032681:Spectral Karyotyping; D014314:Trisomy