caa a22 4500 467984840 CHVBK 20180323112528.0 cr unu---uuuuu 170328e19901001xx s 000 0 eng 10.1007/BF00193595 doi (NATIONALLICENCE)springer-10.1007/BF00193595 A ZFY-negative 46,XX true hermaphrodite is positive for the Y pseudoautosomal boundary [Elektronische Daten] [Ralf Jäger, Cecilia Ebensperger, Marco Fraccaro, Gerd Scherer] Summary: Two loci on the short arm of the human Y chromosome have recently been described as candidates for the testis determining factor (TDF); namely, ZFY, and a locus distal to ZFY, near the pseudoautosomal boundary. We have previously reported on seven 46,XX true hermaphrodites and one 45,X mixed gonadal dysgenesis case all presenting with testicular tissue in their gonads in the apparent absence of Y-specific DNA sequences. A reanalysis of these cases shows them all to lack ZFY, but one 46,XX true hermaphrodite carries sequences next to the Y pseudoautosomal boundary. This case provides further evidence for assigning the TDF locus very close to the pseudoautosomal region on Yp. Springer-Verlag, 1990 Jäger Ralf Institut für Humangenetik und Anthropologie der Universität, Albertstrasse 11, W-7800, Freiburg i. Br., Germany aut Ebensperger Cecilia Institut für Humangenetik und Anthropologie der Universität, Albertstrasse 11, W-7800, Freiburg i. Br., Germany aut Fraccaro Marco Istituto di Biologia Generale e Genetica Medica, University of Pavia, C.P. 217, I-27100, Pavia, Italy aut Scherer Gerd Institut für Humangenetik und Anthropologie der Universität, Albertstrasse 11, W-7800, Freiburg i. Br., Germany aut Human Genetics Springer-Verlag 85/6(1990-10-01), 666-668 0340-6717 85:6<666 1990 85 439 https://doi.org/10.1007/BF00193595 text/html Onlinezugriff via DOI 1 brief-communication jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00193595 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Jäger Ralf Institut für Humangenetik und Anthropologie der Universität, Albertstrasse 11, W-7800, Freiburg i. Br., Germany aut NATIONALLICENCE 700 1- Ebensperger Cecilia Institut für Humangenetik und Anthropologie der Universität, Albertstrasse 11, W-7800, Freiburg i. Br., Germany aut NATIONALLICENCE 700 1- Fraccaro Marco Istituto di Biologia Generale e Genetica Medica, University of Pavia, C.P. 217, I-27100, Pavia, Italy aut NATIONALLICENCE 700 1- Scherer Gerd Institut für Humangenetik und Anthropologie der Universität, Albertstrasse 11, W-7800, Freiburg i. Br., Germany aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 85/6(1990-10-01), 666-668 0340-6717 85:6<666 1990 85 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer