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Sex-reversed XY females with campomelic dysplasia are H-Y negative.
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.
Hum Genet ; 57(1): 15-22, 1981.
Article in English | MEDLINE | ID: mdl-7196380

ABSTRACT

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.


Subject(s)
Disorders of Sex Development , H-Y Antigen/genetics , Osteochondritis/genetics , Bone and Bones/diagnostic imaging , Bone and Bones/pathology , Child, Preschool , Female , Humans , Infant , Karyotyping , Male , Osteochondritis/diagnostic imaging , Phenotype , Radiography
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