Sex-reversed XY females with campomelic dysplasia are H-Y negative
Three families with infants affected with campomelic dysplasia, a genetically determined mesenchymal disease frequently associated with sex reversal were studied. Two XY females with ovarian gonadal differentiation and typical clinical features of campomelic dysplasia could be tested for H-Y antigen...
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| Veröffentlicht in: | Human genetics 1981-01, Vol.57 (1), p.15-22 |
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| container_title | Human genetics |
| container_volume | 57 |
| creator | Bricarelli, F D Fraccaro, M Lindsten, J Müller, U Baggio, P Carbone, L D Hjerpe, A Lindgren, F Mayerová, A Ringertz, H Ritzén, E M Rovetta, D C Sicchero, C Wolf, U |
| description | Three families with infants affected with campomelic dysplasia, a genetically determined mesenchymal disease frequently associated with sex reversal were studied. Two XY females 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. |
| doi_str_mv | 10.1007/BF00271160 |
| format | Article |
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| fulltext | fulltext |
| identifier | ISSN: 0340-6717 |
| ispartof | Human genetics, 1981-01, Vol.57 (1), p.15-22 |
| issn | 0340-6717 1432-1203 |
| language | eng |
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| source | MEDLINE; SpringerLink Journals - AutoHoldings |
| subjects | Bone and Bones - diagnostic imaging Bone and Bones - pathology Child, Preschool Disorders of Sex Development Female H-Y Antigen - genetics Humans Infant Karyotyping Male Osteochondritis - diagnostic imaging Osteochondritis - genetics Phenotype Radiography |
| title | Sex-reversed XY females with campomelic dysplasia are H-Y negative |
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