Duplication of an Xp segment that includes the ZFX locus causes sex inversion in man |
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| Authors: | Gerd Scherer Werner Schempp Carlo Baccichetti Elisabetta Lenzini Franca Dagna Bricarelli Laura Doria Lamba Carbone Ulrich Wolf |
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| Institution: | (1) Institut für Humangenetik und Anthropologie der Universität, Albertstrasse 11, D-7800 Freiburg i.Br., Germany;(2) Department of Pediatrics, University of Padua, Via Giustiniani, 3, I-35128 Padua, Italy;(3) Centre of Human Genetics, E.O. Ospedali Galliera, Via Volta, 6, I-16128 Genoa, Italy |
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| Abstract: | Summary Two 46,XY females with tandem duplications of an X short arm segment were studied by cytogenetic and Southern blot analysis. The results show that the duplicated segment in each case included the Xp21.2–Xp22.2 interval, resulting in a double dose of ZFX on the single active X chromosome. The results from our two cases, in conjunction with those reported by other workers, lead us to conclude that the duplication is the reason for the sex inversion. If ZFY and ZFX are indeed sex-determining gene loci, these findings favour a model of sex determination characterized by antagonistic interaction between these genes. |
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