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.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Baggio P (1974) Sindrome campomelica familiare. Acta Paediatr Latina 27:711–716
Chapelle A de la, Koo GC, Wachtel SS (1978) Recessive sex determining genes in human XX male syndrome. Cell 15:837–843
Fraccaro M, Tiepolo L, Zuffardi O, Chiumello G, Di Natale B, Gargantini L, Wolf U (1979) Familial XX true hermaphroditism and the H-Y antigen. Hum Genet 48:45–52
Fraccaro M, Lindsten J, Pawlowitzki H, Mayerová A, Wolf U (in preparation) Sex chromosome polysomies and H-Y antigen titer: positive/negative correlations with the number of Y/X chromosomes
Fraccaro M, Zuffardi O, Baggio P, Console V, Valagussa E (1980) Campomelic dysplasia and sex reversal. In: Spranger J, Tolksdorf M (eds) Genetik in der Pädiatrie. II. Symposium, Mainz 1979. G Thieme, Stuttgart, pp 62–68
Hall BD, Spranger JW (1980) Campomelic dysplasia. Further elucidation of a distinct entity. Am J Dis Child 134:285–289
Hovmöller ML, Osuna A, Eklöf O, Fredga K, Hjerpe A, Lindsten J, Ritzén M, Stanescu V, Svenningsen N (1977) Camptomelic dwarfism. A genetically determined mesenchymal disorder combined with sex reversal. Hereditas 86:51–62
Maroteaux P, Spranger JW, Opitz MJ, Kucera J, Lowry RB, Schimke RN, Kagan SM (1971) The syndrome campomélique. Press Med 79:1157–1162
Müller U, Aschmoneit I, Zenzes MT, Wolf U (1978) Binding studies of H-Y antigen in rat tissues. Indications for a gonad-specific receptor. Hum Genet 43:151–157
Müller U, Bross K (1979) A highly sensitive peroxidase-antiperoxidase method for detection of H-Y antigen on cultivated human fibroblasts. Hum Genet 52:143–147
Rimoin DL (1979) International nomenclature of constitutional diseases of bone with bibliography. Birth Defects, vol XV, No 10
Spranger JW, Langer LO, Maroteaux P (1970) Increasing frequency of a syndrome of multiple osseus defects. Lancet II:716
Thurmon TF, De Fraites EB, Anderson EE (1973) Familial camptomelic dwarfism. J Pediatr 83:841–843
Wachtel SS, Basrur P, Koo GC (1978) Recessive male-determining genes. Cell 15:279–281
Wolf U (1976) Funktionelle Aspekte der Geschlechtschromosomen beim Säuger. Presented at the 5th Meeting of the Cytogenetics Section of the “Gesellschaft für Anthropologie und Humangenetik” Basel, June 17/19, 1976
Wolf U (1978) Zum Mechanismus der Gonadendifferenzierung. Bull Schweiz Akad Med Wiss 34:357–368
Wolf U (1979) XY gonadal dysgenesis and the H-Y antigen. Hum Genet 47:269–277
Wolf U, Fraccaro M, Mayerová A, Hecht T, Maraschio P, Hameister H (1980a) A gene controlling H-Y antigen on the X chromosome. Tentative assignment by deletion mapping to Xp223. Hum Genet 54:149–154
Wolf U, Fraccaro M, Mayerová A, Hecht T, Zuffardi O, Hameister H (1980b) Turner syndrome patients are H-Y positive. Hum Genet 54:315–318
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Bricarelli, F.D., Fraccaro, M., Lindsten, J. et al. Sex-reversed XY females with campomelic dysplasia are H-Y negative. Hum Genet 57, 15–22 (1981). https://doi.org/10.1007/BF00271160
Received:
Revised:
Issue Date:
DOI: https://doi.org/10.1007/BF00271160