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 and were found to be H-Y negative.
D001842:Bone and Bones / Q000000981:diagnostic imaging / Q000473:pathology; D002675:Child, Preschool; D012734:Disorders of Sex Development; D005260:Female; D006182:H-Y Antigen / Q000235:genetics*; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D010007:Osteochondritis / Q000000981:diagnostic imaging / Q000235:genetics*; D010641:Phenotype; D011859:Radiography
D006182:H-Y Antigen