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Sex-reversed XY females with campomelic dysplasia are H-Y negative |
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| Authors: | Franca Dagna Bricarelli M. Fraccaro J. Lindsten U. Müller P. Baggio Laura Doria Lamba Carbone A. Hjerpe F. Lindgren Antonia Mayerová H. Ringertz E. M. Ritzén D. C. Rovetta C. Sicchero U. Wolf |
| Affiliation: | (1) Ospedali Galliera, Centro Regionale di Genetica Umana, Via Volta 6, Genova, Italy;(2) Istituto di Biologia Generale e Genetica Medica, Università di Pavia, Italy;(3) Department of Clinical Genetics, karolinska Hospital, Stockholm, Sweden;(4) Institute of Human Genetics, University of Freiburg, Albertstr. 11, D-7800 Freiburg, Federal Republic of Germany;(5) Ospedale Civile, Valdagno, Italy;(6) Department of Pathology, Huddinge University Hospital, Stockholm, Sweden;(7) Sachs' Pediatric Hospital, Stockholm, Sweden;(8) Department of Pediatrics, Karolinska Hospital, Stockholm, Sweden;(9) Divisione di Pediatria, Ospedale di Leno, Brescia, Italy |
| Abstract: | Summary Three families with infants affected with campomelic dysplasia, a genetically determined mesenchymal disease frequently associated with sex reversal were studied. Two XY famales with ovarian gonadal differentiation and typical clinical features of campomelic dysplasia could be tested for H-Y antigen and were found to be H-Y negative. |
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