title: Spectral karyotyping refines cytogenetic diagnostics of constitutional chromosomal abnormalities.
abstract: Karyotype analysis by chromosome banding is the standard method for identifying numerical and structural chromosomal aberrations in pre- and postnatal cytogenetics laboratories. However, the chromosomal origins of markers, subtle translocations, or complex chromosomal rearrangements are often difficult to identify with certainty. We have developed a novel karyotyping technique, termed spectral karyotyping (SKY), which is based on the simultaneous hybridization of 24 chromosome-specific painting probes labeled with different fluorochromes or fluorochrome combinations. The measurement of defined emission spectra by means of interferometer-based spectral imaging allows for the definitive discernment of all human chromosomes in different colors. Here, we report the comprehensive karyotype analysis of 16 samples from different cytogenetic laboratories by merging conventional cytogenetic methodology and spectral karyotyping. This approach could become a powerful tool for the cytogeneticists, because it results in a considerable improvement of karyotype analysis by identifying chromosomal aberrations not previously detected by G-banding alone. Advantages, limitations, and future directions of spectral karyotyping are discussed.
authors.affiliation: Genome Technology Branch, National Institutes of Health, Bethesda, Maryland 20892-4470, USA. eschrock@nhgri.nih.gov
authors.forename: E
authors.initials: E
authors.lastname: Schröck
authors.forename: T
authors.initials: T
authors.lastname: Veldman
authors.forename: H
authors.initials: H
authors.lastname: Padilla-Nash
authors.forename: Y
authors.initials: Y
authors.lastname: Ning
authors.forename: J
authors.initials: J
authors.lastname: Spurbeck
authors.forename: S
authors.initials: S
authors.lastname: Jalal
authors.forename: L G
authors.initials: LG
authors.lastname: Shaffer
authors.forename: P
authors.initials: P
authors.lastname: Papenhausen
authors.forename: C
authors.initials: C
authors.lastname: Kozma
authors.forename: M C
authors.initials: MC
authors.lastname: Phelan
authors.forename: E
authors.initials: E
authors.lastname: Kjeldsen
authors.forename: S A
authors.initials: SA
authors.lastname: Schonberg
authors.forename: P
authors.initials: P
authors.lastname: O'Brien
authors.forename: L
authors.initials: L
authors.lastname: Biesecker
authors.forename: S
authors.initials: S
authors.lastname: du Manoir
authors.forename: T
authors.initials: T
authors.lastname: Ried
mesh_terms: D002869:Chromosome Aberrations / Q000175:diagnosis*; D025063:Chromosome Disorders; D003116:Color; D003582:Cytogenetics / Q000379:methods*; D005456:Fluorescent Dyes; D006801:Humans; D007091:Image Processing, Computer-Assisted; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping / Q000379:methods*; D008677:Metaphase; D008856:Microscopy, Fluorescence
chemical_list: D005456:Fluorescent Dyes