title: Assessment of molecular cytogenetic methods for the detection of chromosomal abnormalities.
abstract: Some marker chromosomes and chromosome rearrangements are difficult to identify using G-bands by Giemsa staining after trypsin treatment (G-banding) alone. Molecular cytogenetic techniques, such as spectral karyotyping (SKY) and fluorescence in situ hybridization (FISH), can help to detect chromosomal aberrations precisely. We analyzed the karyotypes in 6 cases of multiple congenital abnormalities and 1 case of spontaneous abortion (case 2). Three cases (cases 1, 6, and 7) had marker chromosomes, and 4 cases (cases 2-5) had chromosomal rearrangements. The karyotypes in cases 1, 2, and 3 were determined using FISH with probes based on the clinical findings and family histories. Spectral karyotyping (SKY) analysis in cases 4-7 showed that this method is useful and saves time. The combination of SKY and FISH analyses defined the range of the ring chromosome in case 7. We demonstrated that a combination of G-banding, FISH, and SKY can be applied effectively to the investigation of chromosomal rearrangement and to the detection of marker chromosome origins. We suggest the use of these methods for prenatal diagnosis, in which the inherent time limitations are particularly important.
authors.affiliation: Department of Pediatrics, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama 700-8558, Japan. tomoka-u@nifty.com
authors.forename: Tomoka
authors.initials: T
authors.lastname: Une
authors.forename: Yuji
authors.initials: Y
authors.lastname: Yokoyama
authors.forename: Shinsuke
authors.initials: S
authors.lastname: Ninomiya
authors.forename: Masako
authors.initials: M
authors.lastname: Shinozuka
authors.forename: Hidehiko
authors.initials: H
authors.lastname: Maruyama
authors.forename: Tsuneo
authors.initials: T
authors.lastname: Morishima
mesh_terms: D000328:Adult; D002869:Chromosome Aberrations; D002871:Chromosome Banding / Q000379:methods; D020732:Cytogenetic Analysis / Q000379:methods*; D005260:Female; D005333:Fetus; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007621:Karyotyping; D008297:Male