caa a22 4500 467985782 CHVBK 20180323112531.0 cr unu---uuuuu 170328e19901001xx s 000 0 eng 10.1007/BF00194221 doi (NATIONALLICENCE)springer-10.1007/BF00194221 Y isochromosome associated with a mosaic karyotype and inactivation of the centromere [Elektronische Daten] [Thomas Haaf, Michael Schmid] Summary: A patient with azoospermia and a Y isochromosome is described. The breakpoint producing this i(Y) was within the terminal short arm of the Y chromosome. Lymphocyte cultures from peripheral blood contained a high proportion of 45,X cells and cells with different Y-chromosome rearrangements. The i(Y) had either a monocentric or dicentric appearance. In dicentrics, anti-kinetochore immunofluorescence was present at both centromeres. However, this was also true for most of the functional monocentrics (pseudodicentrics). Kinetochore staining was generally positive at the site of the inactive centromeres; only a minority of the suppressed centromeres had lost their antigenic properties. Permanently growing lymphoblasts consistently showed a monocentric i(Y) with only one fluorescing kinetochore; the immunonegative Y centromere did not recover antigenicity. Springer-Verlag, 1990 Haaf Thomas Institut für Humangenetik der Universität, Koellikerstrasse 2, D-8700, Würzburg, Federal Republic of Germany aut Schmid Michael Institut für Humangenetik der Universität, Koellikerstrasse 2, D-8700, Würzburg, Federal Republic of Germany aut Human Genetics Springer-Verlag 85/5(1990-10-01), 486-490 0340-6717 85:5<486 1990 85 439 https://doi.org/10.1007/BF00194221 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00194221 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Haaf Thomas Institut für Humangenetik der Universität, Koellikerstrasse 2, D-8700, Würzburg, Federal Republic of Germany aut NATIONALLICENCE 700 1- Schmid Michael Institut für Humangenetik der Universität, Koellikerstrasse 2, D-8700, Würzburg, Federal Republic of Germany aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 85/5(1990-10-01), 486-490 0340-6717 85:5<486 1990 85 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer