caa a22 4500 467986401 CHVBK 20180323112533.0 cr unu---uuuuu 170328e19901201xx s 000 0 eng 10.1007/BF00197696 doi (NATIONALLICENCE)springer-10.1007/BF00197696 Cytogenetic and molecular analysis of a Yq isochromosome [Elektronische Daten] [Martina Guttenbach, Ulrich Müller, Michael Schmid] Summary: The dicentric Yq isochromosome of a male with azoospermia and some features of Klinefelter's syndrome was examined using cytogenetic and molecular methods. C- and R-banding of chromosomes of peripheral blood lymphocytes revealed a complex mosaic consisting of 46,X,i(Yq)/45,XO/46.XY/47,XYY/47,XY, i(Yq) / 47,X,i(Yq),i(Yq) cells. EBV-transformed lymphocytes either had a 46,X,i(Yq) (90%) or a 46,X,+mar (10%) karyotype. The marker chromosome was shown to be Y-derived by in situ hybridization. C-banding, quinacrine-and DA/DAPI-staining indicated inactivation of one of the centromeres in almost all Yq isochromosomes. The use of Y chromosomal DNA sequences demonstrated that most of the Y chromosome, including its short arm, was duplicated. Springer-Verlag, 1990 Guttenbach Martina Institut für Humangenetik der Universität, Koellikerstrasse 2, W-8700, Würzburg, Germany aut Müller Ulrich Genetics Division and Mental Retardation Center, The Children's Hospital, 02115, Boston, MA, USA aut Schmid Michael Institut für Humangenetik der Universität, Koellikerstrasse 2, W-8700, Würzburg, Germany aut Human Genetics Springer-Verlag 86/2(1990-12-01), 147-150 0340-6717 86:2<147 1990 86 439 https://doi.org/10.1007/BF00197696 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00197696 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Guttenbach Martina Institut für Humangenetik der Universität, Koellikerstrasse 2, W-8700, Würzburg, Germany aut NATIONALLICENCE 700 1- Müller Ulrich Genetics Division and Mental Retardation Center, The Children's Hospital, 02115, Boston, MA, USA aut NATIONALLICENCE 700 1- Schmid Michael Institut für Humangenetik der Universität, Koellikerstrasse 2, W-8700, Würzburg, Germany aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 86/2(1990-12-01), 147-150 0340-6717 86:2<147 1990 86 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer