Summary
A 27-year-old patient of short stature with primary amenorrhea and other slight Turner signs showed a 46,XX,del(X) (qter→p11:) karyotype, identified by a combination of fluorescence and giemsa-banding technique. By BUdR incorporation the deleted X chromosome was shown to be the late replicating one.
Similar content being viewed by others
References
Atkins, L., Santesson, B., Voss, H.: Partial deletion of an X chromosome. Ann. hum. Genet.29, 89 (1965)
Barakat, B. Y., Jones, H. W., Jr.: Gynecologic and cytogenetic aspects of gonadal agenesis and dysgenesis. Obstet. and Gynec.36, 368–372 (1970)
Boczkowski, K., Mikkelsen, M.: Fluorescence and autoradiographic studies in patients with Turner's syndrome and 46,XXp- and 46,XXq- karyotypes. J. med. Genet.10, 350 (1973)
Broustet, MM. A., Nogue, F., Emperaire, J. C., Garcia, J., Darmaillacq, R.: Caryotype xXi et syndrome de Turner. Bordeaux méd.5, 679–684 (1972)
Dutrillaux, B., Laurent, C., Couturier, J., Lejeune, J.: Coloration des chromosomes humains par l'acridine orange après traitement par le 5 bromo deoxyuridin. C.R. Acad. Sci. (Paris), t. 276 Ser. D.-3179 (1973)
Engel, E., Forbes, A. P.: Cytogenetic and clinical findings in 48 patients with congenitally defective or absent ovaries. Medicine44, 135 (1965)
Ferguson-Smith, M. A., Alexander, D. S., Bowen, P., Goodman, R. M., Kaufmann, B. N., Jones, H. W., Jr., Heller, R. H.: Clinical and cytogenetical studies in female gonadal dysgenesis and their bearing on the cause of Turner's syndrome. Cytogenetics3, 355–383 (1964)
Fraccaro, M.: DNA replication and sex chromosome function in the first stages of gametogenesis. Vortrag gehalten auf der 14. Tagung der Gesellschaft für Anthropologie und Humangenetik, Wien 1975
Giraud, F., Hartung, M., Mattei, J. F., Bachelet, Y., Mattei, M.-G.: Délétion partielle du bras court d'un chromosome X. Arch. franç. Pédiat.31, 717–724 (1974)
Goldberg, M. B., Scully, A. L., Solomon, I. L., Steinbach, H. C.: Gonadal dysgenesis in phenotypic female subjects. Ann. J. Med.45, 529 (1968)
Golob, E., Fischer, P., Kunze-Mühl, E.: Morphologisch abnorme X-Chromosomen. Dtsch. med. Wschr.92, 71–74 (1967)
Hoo, J. J.: Cytogenetic evidence for evolution of X-chromosome inactivation. Lancet1975 I, 1299
Jacobs, A. P., Buckton, K. E., King, M. J., Harnden, D. G., Brown, W. M. C., McBride, J. A.: Cytogenetic studies in primary amenorrhoea. Lancet1961 I, 1183–1188
Koske-Westphal, T., Seel, R. E., Passarge, E.: Double deletion of X-chromosome. Lancet1974 II, 1577
Lejeune, J., Doumie, J. M., Berger, R., Rethoré, M.-O.: Sur un cas de dysgénésie ovarienne XXde. Ann. Génét.9, 132–133 (1966)
Lindsten, J., Fraccaro, M., Ikkos, D., Kaijser, K., Klinger, H. P., Luft, R.: Presumptive isochromosomes for the long arm of X in man. Ann. hum. Genet.26, 383 (1963a)
Lindsten, J., Fraccaro, M., Polani, P. E., Hamerton, I. L., Sanger, R., Race, R. R.: Evidence that the Xg blood group genes are on the short arm of the X-chromosome. Nature (Lond.)197, 648 (1963b)
Lyon, M. E.: Geneaction in the X-chromosome of the mouse (Mus musculus L.). Nature (Lond.)190, 372 (1961)
Polani P. E., et al.: Zit. in: Race and Sanger (1969)
Race, R. R., Sanger, R.: Xg and sex chromosome abnormalities. Brit. med. Bull.25, 99–103 (1969)
Schmid, W., Naef, E., Mürset, G., Prader, A.: Cytogenetic findings in 89 cases of Turner's syndrome with abnormal karyotypes. Humangenetik24, 93–104 (1974)
Steinberger, E., Steinberger, A., Smith, K. D., Perloff, W. H.: Apparent deletion of X chromosome in a prepuberal girl. J. med. Genet.3, 226–229 (1966)
Summer, A. T.: A simple technique for demonstrating centromeric heterochromatin. Exp. Cell Res.75, 302 (1972)
Therman, E., Pätau, K.: Abnormal X chromosomes in man: Origin, behavior and effects. Humangenetik25, 1–16 (1974)
Tveteras, E.: Gonadal dysgenesis with deleted X chromosome. Acta paediat. scand., Suppl.159, 131–132 (1965)
van den Berghe, H.: Bizarre karyotypes and Turner's syndrom. IV. Tagung der Section Cytogenetik der Gesellschaft für Anthropologie und Humangenetik, 12.–15.6. 1974
Wang, H. C., Fedoroff, S.: Banding in human chromosomes treated with trypsin. Nature (Lond.) New Biol.235, 52–54 (1972)
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Kaiser, P., Zabel, B., Hansen, S. et al. Short arm deletion of an X chromosome, 46,XXp-. Hum Genet 32, 89–100 (1976). https://doi.org/10.1007/BF00569982
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF00569982