Summary
A case of female hemophilia with a 46,XXr/45,X karyotype and signs of Turner syndrome, has been followed for the past 10 years. One of her brothers also has hemophilia A. A study with polymorphic DNA probes located in the Xq27-qter region has enabled us to demonstrate that the ring chromosome is of paternal origin and that the factor VIII gene region is deleted. The hemizygous state allowed expression of the hemophilia A mutation, present on the morphologically normal X chromosome, inherited from her carrier mother.
Similar content being viewed by others
References
Altay C, Tungbilek E, Ozsoylu S (1975) Hemophilia A in a phenotypically normal female with 45,XO/46,X,r(X) mosaicism. Excerpta Medica, Amsterdam, pp 176–180
Bithel TC, Pizzarda A, MacDiarmid WD (1970) Variant of factor IX deficiency in female with Turner's syndrome. Blood 36:169
Gilchrist GS, Hammond D, Helnyk J (1965) Hemophilia A in a phenotypically normal female with XX,XO mosaicism. N Engl J Med 273:1402–1406
Grunebaum L, Cazenave JP, Camerino G, Kloepfer C, Mandel JL, Tolstocher P, Jaye M, De La Salle H, Lecocq JP (1984) Carrier detection of hemophilia B by using a restriction site polymorphism associated with the coagulation factor IX gene. J Clin Invest 73:1491–1495
Mori PG, Pasino M, Rosanda Vadala C, Bisogni MC, Tonini GP, Scarabicchi S (1979) Hemophilia A in a 46,i(Xq) female. Br J Haematol 43:143–147
Neuschatz J, Necheles TF (1973) Hemophilia B in a phenotypically normal girl with XX (ring) XO mosaicism. Acta Haematol (Basel) 49:108
Oberle I, Drayna D, Camerino G, White R, Mandel JL (1985) The telomere of the human X chromosome long arm; presence of a highly polymorphic DNA marker and analysis of recombination frequency. N Engl J Med 312:682–686
Samama M, Perrotez Ch, Houssa R, Hafsia A, Seger J (1977) Hemophilie A féminine avec délétion d'une partie du bras long d'un chromosome X. Pathol Biol (Paris) [Suppl] 25:10–17
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Gilgenkrantz, S., Briquel, ME., Mandel, J.L. et al. A case of female hemophilia with a 46,XXr karyotype studied with X-chromosome DNA probes. Hum Genet 72, 157–159 (1986). https://doi.org/10.1007/BF00283936
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF00283936