Summary
Among 209 patients with Shereshevsky-Turner syndrome, 69 women with structural aberrations of X chromosome were detected: 46,X, i(Xq)-11; 45,X/46,X,i(Xq)-24; 45,X/46,X,r(X)-14; 45,X/46,X,f(X or Y)-10; 45,X/46,X,del(Xq)-4; 45,X/46,X,del(Xp)-2; 45,X/46,X,idic(X)-2; 46,X,idic(X)-1; and 46,X,t(X,2)-1. All the patients with structural abnormalities of X chromosome were short in stature, but in no group was it as low on the average as in 45,X cases. Somatic signs were noticed in all structural changes of X, but they were less frequent and less pronounced. In some patients with r(X) and i(Xq), spontaneous menstrual bleeding and breast development was found.
The structurally abnormal X chromosome appears to be functionally inactive, the phenotype of patients with structural rearrangements being close to the phenotype of patients with X monosomy. At the same time, the abnormal X might have certain effects in early embryogenesis which mitigated the further development of the Shereshevsky-Turner syndrome.
Similar content being viewed by others
References
Bishop, A. M., Blank, C. E., Simpson, K., Dewhurst, C. I.: An XO/X ring X chromosome mosaicism in an individual with normal secondary sexual development. J. Med. Genet. 3, 129–133 (1966)
Bogomasov, E. A., Vdovichenko, A. S.: Ring X-chromosome in monozygotic twins with Shereshevsky-Turner syndrome. Genetica 5, 170–177 (1969)
Chapelle, A., de la, Stenstrand, K.: Dicentric human X chromosomes. Hereditas 76, 259–267 (1974)
Forabosco, A., Dallapiccola, B.: X long-arm deletion with features of Turner's syndrome. Lancet 1974 II, 403–404
Hagemeijer, A., Hoovers, J., Hasper-Voogt, J., von Ruhe-Zurcher, T., Bootsma, D.: Late replicating ring X-chromosomes identified by R-banding after BrdU pulse. Three new examples of mosaicism 45,XO/46,Xr(X). Hum. Genet. 34, 45–52 (1976)
Hungerford, D. A.: Leucocytes cultured from small inocula of whole blood and the preparation of metaphase chromosomes by treatment with hypotonic KCl. Stain Technol. 40, 331–334 (1965)
Hustinx, T., Stoelinga, G.: A ring X chromosome in part of the somatic cells of a patient with some characteristics of the Turner syndrome. Genetica 35, 1–14 (1964)
Kaiser, P., Zabel, D., Hansen, S., Daume, E.: Short arm deletion of an X chromosome, 46,XXp-. Hum. Genet. 32, 89–100 (1976)
Lindsten, J., Tillinger, K. G.: Self-perpetuating ring chromosome in a patient with gonadal dysgenesis. Lancet 1962 I, 593–594
Mashkova, M. V., Verlinskaja, D. K.: Familial X-autosomal translocation t(X,2). Tsitologia 18, 901–905 (1976)
Mikkelsen, M., Dahl, G.: Unbalanced X/autosomal translocation with inactivation of the normal X chromosome. Cytogenet. Cell. Genet. 12, 357–366 (1973)
Sanderson, A. R.: Rapid nuclear sexing. Lancet 1960 I, 1252–1253
Seabright, M.: A rapid banding technique for human chromosomes. Lancet 1971 II, 971–972
Seleznev, Y. V.: A modified method of staining of human chromosomes after Giemsa for detection of their linear differentiation. Bull. Exp. Biol. Med. 73, 122–124 (1972)
Sumner, A. T.: A simple method for demonstrating centromeric heterochromatin. Exp. Cell. Res. 75, 304–306 (1972)
Therman, E., Patau, K.: Abnormal X chromosomes in man: Origin, behavior and effects. Humangenetik 25, 1–16 (1974)
Verlinskaja, D. K., Mashkova, M. V.: Isodicentric X-chromosomes in man. (in press, 1977)
Zakharov, A. F.: Late-replication patterns of aneuploid karyotypes in cultured Chinese hamster cells. Tsitologia 8, 201–207 (1966)
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Davidenkova, E.F., Verlinskaja, D.K. & Mashkova, M.V. Structural aberrations of the X chromosome in man. Hum Genet 41, 269–279 (1978). https://doi.org/10.1007/BF00284761
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF00284761