title: Characterization of Robertsonian translocations by using fluorescence in situ hybridization.
abstract: Fluorescence in situ hybridization with five biotin-labeled probes (three alphoid probes, a probe specific for beta-satellite sequences in all acrocentric chromosomes, and an rDNA probe) was used to characterize 30 different Robertsonian translocations, including three t(13;13); one t(15;15), four t(21;21), three t(13;14), two t(13;15), two (13;21), two t(13;22), one t(14;15), eight t(14;21), two t(14;22), and two t(21;22). Of 8 de novo homologous translocations, only one t(13;13) chromosome was interpreted as dicentric, while 19 of 22 nonhomologous Robertsonian translocations were dicentric. The three monocentric nonhomologous translocations included both of the t(13;21) and one t(21;22). Two of 26 translocations studied using the beta-satellite probe showed a positive signal, while rDNA was undetectable in 10 cases studied. These results indicate that most homologous Robertsonian translocations appear monocentric, while the bulk of nonhomologous translocations show two alphoid signals. A majority of the breakpoints localized using this analysis seem to be distal to the centromere and just proximal to the beta-satellite and nuclear-organizing regions.
authors.affiliation: Department of Obstetrics and Gynecology, University of Maryland School of Medicine, Baltimore 21201.
authors.forename: D J
authors.initials: DJ
authors.lastname: Wolff
authors.forename: S
authors.initials: S
authors.lastname: Schwartz
mesh_terms: D001710:Biotin / Q000378:metabolism; D002877:Chromosomes, Human; D002882:Chromosomes, Human, Pair 13; D002883:Chromosomes, Human, Pair 14; D002884:Chromosomes, Human, Pair 15; D002891:Chromosomes, Human, Pair 21; D015342:DNA Probes; D005455:Fluorescent Antibody Technique; D006801:Humans; D007621:Karyotyping; D009693:Nucleic Acid Hybridization; D012335:RNA, Ribosomal / Q000235:genetics; D014178:Translocation, Genetic
chemical_list: D015342:DNA Probes; D012335:RNA, Ribosomal; D001710:Biotin