title: Multicolour spectral karyotyping for complex chromosomal rearrangements in repeated abortion or congenital anomalies.
abstract: Advances in molecular cytogenetics, especially the technique of fluorescence in situ hybridization (FISH), have allowed more precise definition of chromosomal structures, which are difficult to identify using conventional G-banding. Recently, a novel approach based on hybridization of 24 fluorescent-labelled chromosome painting probes was developed, termed spectral karyotyping (SKY), which allows the simultaneous and differential colour display of all human chromosomes. We have used SKY to identify not only five parental complex translocation carriers but also minute chromosome rearrangements in the fetus. Here, we concentrate attention on the clinical application of SKY for prenatal diagnosis.
authors.affiliation: Department of Obstetrics and Gynaecology, Nagoya City University Medical School, Nagoya, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Tanemura
authors.forename: K
authors.initials: K
authors.lastname: Suzumori
authors.forename: N
authors.initials: N
authors.lastname: Nishikawa
authors.forename: Y
authors.initials: Y
authors.lastname: Ishihara
mesh_terms: D000026:Abortion, Habitual / Q000235:genetics*; D000328:Adult; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D020223:Chromosome Painting / Q000379:methods*; D000013:Congenital Abnormalities / Q000235:genetics*; D005260:Female; D020440:Gene Duplication; D006801:Humans; D007621:Karyotyping / Q000379:methods*; D011247:Pregnancy; D014178:Translocation, Genetic; D014314:Trisomy