Summary
A 31-year-old female patient with short stature, signs of gonadal dysgenesis, and slight Turner signs is described with a mosaic 45,XO/46,XX del (X) (qter→p11) determined with trypsin Giemsa-banding and C-staining. BUdR incorporation indicated the deleted X to be late replicating.
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Atkins, L., Santesson, B., Voss, H.: Partialdeletion of an X-chromosome. Ann. hum. Genet. 29, 89 (1965)
Boczkowski, K., Mikkelsen, M.: Fluorescence and autoradiographic studies in patients with Turner's syndrome and 46,XX p-and 46, XX q-karyotype. J. med. Genet. 10, 350 (1973)
Buckton, K. E., Jacobs, A. P., Race, C. A., Newton, M. S., Sanger, R.: An inherited X-autosome translocation in man. Ann. hum. Genet. Lond. 35, 171–178 (1971)
Dutrillaux, B., Laurent, C., Couturier, J., Lejeune, J.: Coloration des chromosomes humains par l'acridine orange après traitement par le 5 bromodeoxyuridin. C.R. Acad. Sci. (Paris) 276, Ser.-D.-3179 (1973)
Ferguson-Smith, M. A.: Karyotype-phenotype correlations in gonadal dysgenesis and their bearing on the pathogenesis of malformations. J. med. Genet. 2, 142 (1965)
Kaiser, P., Zabel, B., Hansen, S., Daume, E.: Short arm deletion of an X-chromosome 46, XX p-. Human Genet. 32, 89–100 (1976)
Kosowicz, J.: The roentgen appearance of the hand and wrist in gonadal dysgenesis. Amer. J. Roentgen. 93, 354 (1965)
Lindsten, J.: The nature and origin of X-chromosome aberrations in Turner's syndrome. Uppsala: Almqvist and Wiksell 1963
London, D. R., Kemp, N. H., Ellis, J. R., Mittwoch, U.: Turner's syndrome with secondary amenorrhoea and sex chromosome mosaicism. Acta endocrin. 46, 341–351 (1964)
Neu, R. L., Kaji, T., Nolan, T. B., Gardener, L. I.: 45,X/46, XX p-mosaicism in an prepubertal girl. Ann. Genet. 11/1, 11–16 (1968)
Simpson, J. L., Allen, F. H., German, J.: Abnormalities of human sex chromosomes II. Turners syndrome associated with the mosaicism 45,XO/46,XXp-. Ann. Génét. 14, No. 2, 105–111 (1971)
Steinberger, E., Steinberger, A., Smith, K. D., Perloff, W. H.: Apparent deletion of X-chromosome in a prepubertal girl. J. med. Genet. 3, 226–229 (1966)
Wang, H. C., Fedoroff, S.: Banding in human chromosomes treated with trypsin. Nature New Biol. 235, 52–54 (1972)
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Kaiser, P., Gerhard-Ratschow, K., Zabel, B. et al. Short-arm deletion of an X chromosome (45,XO/46,XX p-). Hum Genet 37, 93–96 (1977). https://doi.org/10.1007/BF00293778
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DOI: https://doi.org/10.1007/BF00293778