title: Identification of a supernumerary der(18) chromosome by a rational strategy for the cytogenetic typing of small marker chromosomes with chromosome-specific DNA probes.
abstract: A case of a supernumerary der(18) marker chromosome is presented. The chromosomal origin of the marker chromosome was not evident by traditional chromosome analysis, but was determined by PRimed IN Situ labelling (PRINS) with chromosome specific centromere probes as primers for chain elongation in situ. For this purpose a strategy was developed which, in a few simple reactions, makes it possible unequivocally to determine the origin of any small marker chromosome. The approach does not require any hints about the origin of the chromosome prior to the analysis, since the chromosomal origin of the marker is established through PRINS reactions with pooled and single chromosome-specific centromere probes. Identification, mosaic screening and structural analysis require a total of 8-9 such reactions and may, due to the extreme speed of the PRINS reaction, be obtained within a single working day.
authors.affiliation: Institute of Human Genetics, University of Aarhus, Denmark.
authors.forename: J
authors.initials: J
authors.lastname: Koch
authors.forename: H
authors.initials: H
authors.lastname: Fischer
authors.forename: H
authors.initials: H
authors.lastname: Askholm
authors.forename: J
authors.initials: J
authors.lastname: Hindkjaer
authors.forename: S
authors.initials: S
authors.lastname: Pedersen
authors.forename: S
authors.initials: S
authors.lastname: Kølvraa
authors.forename: L
authors.initials: L
authors.lastname: Bolund
mesh_terms: D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002887:Chromosomes, Human, Pair 18; D015342:DNA Probes; D004431:Ear, External / Q000002:abnormalities; D005260:Female; D005819:Genetic Markers; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D007569:Jaw Abnormalities / Q000235:genetics*; D007621:Karyotyping; D011247:Pregnancy; D012886:Skull / Q000002:abnormalities*
chemical_list: D015342:DNA Probes; D005819:Genetic Markers