Absence of Turner stigmata in a 46,XYp-female |
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| Authors: | Ulrich Müller Vincent G H J Kirkels Jacques M J Scheres |
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| Institution: | (1) Genetics Division, Children's Hospital, Department of Pediatrics, Harvard Medical School, 02115 Boston, MA, USA;(2) Department of Gynecology and Obstetrics, St. Radboud Hospital, Catholic University Nijmegen, Nijmegen, The Netherlands;(3) Department of Human Genetics, State University Maastricht, Maastricht, The Netherlands;(4) Present address: Institut für Humangenetik, Justus-Liebig-Universität, Schlangenzahl 14, W-6300 Giessen, Federal Republic of Germany |
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| Abstract: | A 46,XY female patient with streak gonads and a large deletion of Yp is described. The deletion included the Y chromosomal genes SRY, ZFY, and RPS4Y. The patient did not display any Turner stigmata, such as webbing of the neck, cardiac or other abnormalities. The findings argue against an important role of RPS4Y in the prevention of Turner stigmata in males and are consistent with a role of SRY in testis differentiation in humans. |
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