title: Application of fluorescence in situ hybridization techniques in clinical genetics: use of two alphoid repeat probes detecting the centromeres of chromosomes 13 and 21 or chromosomes 14 and 22, respectively.
abstract: Two cloned DNA fragments, one derived from an alpha satellite subfamily common to chromosomes 13 and 21, and the other derived from a similar subfamily common to chromosomes 14 and 22, have been used as biotinylated probes in in situ hybridization studies. Under high stringency conditions, chromosome specific centromeric labelling can be obtained. The applications of this technique in clinical situations are illustrated on metaphases from a fetus with trisomy 21, a fetus with trisomy 13, and a child with clinical features of cat-eye syndrome.
authors.affiliation: Institute of Human Genetics, University of Aarhus, Denmark.
authors.forename: S
authors.initials: S
authors.lastname: Kølvraa
authors.forename: J
authors.initials: J
authors.lastname: Koch
authors.forename: N
authors.initials: N
authors.lastname: Gregersen
authors.forename: P K
authors.initials: PK
authors.lastname: Jensen
authors.forename: A L
authors.initials: AL
authors.lastname: Jørgensen
authors.forename: K B
authors.initials: KB
authors.lastname: Petersen
authors.forename: K
authors.initials: K
authors.lastname: Rasmussen
authors.forename: L
authors.initials: L
authors.lastname: Bolund
mesh_terms: D002503:Centromere / Q000648:ultrastructure*; D002871:Chromosome Banding; D002882:Chromosomes, Human, Pair 13; D002883:Chromosomes, Human, Pair 14; D002891:Chromosomes, Human, Pair 21; D002892:Chromosomes, Human, Pair 22; D003001:Cloning, Molecular; D004247:DNA / Q000235:genetics*; D015342:DNA Probes; D004314:Down Syndrome / Q000175:diagnosis / Q000235:genetics; D005819:Genetic Markers / Q000235:genetics*; D006801:Humans; D008856:Microscopy, Fluorescence; D011296:Prenatal Diagnosis; D012091:Repetitive Sequences, Nucleic Acid / Q000235:genetics*; D014314:Trisomy
chemical_list: D015342:DNA Probes; D005819:Genetic Markers; D004247:DNA