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Translocation X sur autosome et replication tardive

A propos d'une observation avec étude des X en autoradiographie et après traitement au BUDR

Late replication and X-autosome translocation

A case with banding patterns, autoradiographic and B.U.D.R. studies

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Summary

A patient with ovarian failure was found to have a segment of the long arm of an X chromosome translocated to the distal end of the short arm of a 2nd chromosome: 46,X,t(X;2)(q21;p25). The Barr bodies were of normal size. Autoradiographic and B.U.D.R. studies showed that the normal X was the late-replicating X. The translocated segment was late replicating in 5% without spreading effect. It is suggested that preferential inactivation of the normal X chromosome is observed when a segment of X chromosome is translocated onto an autosome. When a segment of autosome is translocated onto an X chromosome, the abnormal X chromosome is consistently late-replicating. These findings may be available for other mammalian species in the balanced translocations.

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Bibliographie

  1. Allderdice, P. W., Miller, O. J., Klinger, M. P., Pallister, P. D., Opitz, J. M.: Demonstration of a spreading effect in an X-autosome translocation by combined autoradiographic and quinacrine-fluorescence studies. Excerpta Med. 233, 14 (1971)

    Google Scholar 

  2. Baranovskaya, L. T., Zakharov, A. F., Dutrillaux, B., Carpentier, S., Prieur, M., Lejeune, J.: Differenciation des chromosomes X par les méthodes de despiralisation au 5 bromodéoxyuridine (BUDR) et de dénaturation ménagée. Ann. Génét. 15, 271 (1972)

    Google Scholar 

  3. 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)

    Google Scholar 

  4. Buckton, K. E., Jacobs, P. A., Rae, L. A.: An inherited X-autosome translocation in man. Ann. hum. Genet. 35, 171 (1971)

    Google Scholar 

  5. Cabrol, C.: Contribution à l'étude autoradiographique des chromosomes humains. Thèse Pharmacie Nancy (1972)

  6. Cattanach, B. M.: A chemically-induced variegated-type position effect in the mouse. Z. Vererbungsl. 92, 165 (1961)

    Google Scholar 

  7. Cattanach, B. M.: Controlling elements in the mouse X-chromosome. III. Influence upon both parts of an X divided by rearrangement. Genet. Res. 16, 293 (1970)

    Google Scholar 

  8. Cohen, M. M., Capraro, V. J., Takagi, N.: Pericentric inversion in a group D chromosome (13–15) associated with amenorrhea and gonadal dysgenesis. Ann. hum. Genet. 30, 313 (1967)

    Google Scholar 

  9. Cohen, M. M., Lin, C. C., Sybert, V., Orecchio, E. J.: Two human X-autosome translocations identified by autoradiography and fluorescence. Amer. hum. Genet. 24, 583 (1972)

    Google Scholar 

  10. Disteche, C., Hagemeijed, A., Frederic, J., Progneaux, D.: An abnormal large human chromosome identified as an end to end fusion of two X's by combined results of the new banding techniques and microdensimetry. Clin. Genet. 3, 388 (1972)

    Google Scholar 

  11. Dollmann, A., Nocke, W., Stengel-Rutkowski, S.: Gonadendysgenesie mit ungewöhnlicher Struckturanomalie eines X-Chromosomes (45,X/46,XXq+). Humangenetik 14, 285 (1972)

    Google Scholar 

  12. Dutrillaux, B., Laurent, C., Couturier, J., Lejeune, J.: Coloration par l'acridine organe des chromosomes préalablement traités par le 5 bromodéoxyuridine (BUDR). C.R. Acad. Sci. (Paris) 276, 3179 (1973)

    Google Scholar 

  13. Dutrillaux, B., Couturier, J., Rotman, J., Salat, J., Lejeune, J.: Stérilité et translocation familiale t (1 q-; X q+). C.R. Acad. Sci. (Paris) 274, 3324 (1972)

    Google Scholar 

  14. Dutrillaux, B., Laurent, C., Gilgenkrantz, S., Frederic, J., Carpentier, S., Couturier, J., Lejeune, J.: Les translocations du chromosome X. Etude après traitement par le BUDR et coloration par l'acridine orange. A paraître in Acta pediat. helv. (Suppl.)

  15. Eberle, P., Ammermann, M., Wolf: Zur Variabilität des weiblichen Turner-Syndroms. Chromosomenanalysen und klinische Befunde bei 17 typischen und atypischen Fällen. Arch. Gynäk. 213, 202 (1973)

    Google Scholar 

  16. Edwards, J. H.: Barr bodies. Lancet 1961 I, 616

    Google Scholar 

  17. Elves, M. W., Israels, M. C. G.: An abnormal large chromosome in a haemophilic with congenital abnormalities. Lancet 1962 II, 909

    Google Scholar 

  18. Emeri, J., German, J., Grippa, L. P., Sureau, C.: Duplication d'un chromosome X dans un cas de syndrome de Turner (45,X/46,XX p+). Ann. Génét. 13, 245 (1970)

    Google Scholar 

  19. Engel, W., Vogel, W., Reinwein, H.: Autoradiographische Untersuchungen an einer X-Autosomentranslokation bei Menschen 45,X,15-, t(15q Xq+). Cytogenetics 10, 87 (1971)

    Google Scholar 

  20. Ford, C. E., Evans, E. P.: A reciprocal translocation in the mouse between the X chromosome and a short autosome. Cytogenetics 3, 295 (1964)

    Google Scholar 

  21. German, J.: Autoradiographic studies of human chromosome I, a review. Proc. 3rd int. Cong. hum. Genet., J. F. Crowand, J. V. Neel, Eds., 1967, 123

  22. German, J.: Abnormalities of human sex chromosomes. V. A unifying concept in relation to the gonadal dysgenesis. Clin. Genet. 1, 15 (1970)

    Google Scholar 

  23. Giannelli, F., Hamerton, J. L.: Non random late replication of X chromosomes in mules and hinnies. Nature (Lond.) 232, 315 (1971)

    Google Scholar 

  24. Grzeschik, K. H., Allderdice, P. W., Grzeschik, A., Opitz, J. M., Miller, O. J., Siniscalco, M.: Cytological mapping of human X-linked genes by use of somatic cell hybrids involving an X-autosome translocation. Proc. nat. Acad. Sci. (Wash.) 69, 69 (1972)

    Google Scholar 

  25. Gustavsson, I., Fraccaro, M., Tiepolo, L., Lindstein, J.: Presumptive X-autosome translocation in a cow: preferential inactivation of the normal X chromosome. Nature (Lond.) 218, 183 (1968)

    Google Scholar 

  26. Hagemeijer, A., Pearson, P. L., Batenburg-Plenter, A. M., Smit, E. M. E.: Somatic cell hybridization and marker genes study applied to the understanding of an X-17 translocation transmitted in three generations. Bull. Europ. Soc. hum. Genet. Okt., 49 (1973)

  27. Hamerton, J. L., Richardson, B. J., Gee, P. A., Allen, N. R., Short, R. V.: Non random X chromosome expression in female mules and hinnies. Nature (Lond.) 232, 312 (1971)

    Google Scholar 

  28. Hsu, L., Hirschhorn, K.: Genetic and clinical considerations of long-arm deletion of the X chromosome. Pediatrics 45, 656 (1970)

    Google Scholar 

  29. Hugh-Jones, K., Wallace, S. J., Thornber, J. M.: Gonadal dysgenesis with unusual abnormalities. Arch. Dis. Child. 40, 274 (1965)

    Google Scholar 

  30. Kallio, H.: Cytogenetic and clinical study on 100 cases of primary amenorrhea. Acta Gynec. Obstet. scand. (1973, à paraître)

  31. Lucas, M., Smithies, A.: Banding patterns and autoradiographic studies of cells with an X-autosome translocation. Ann. hum. Genet. 37, 9 (1973)

    Google Scholar 

  32. Lyon, M. F.: Gene action in the X chromosome of the mouse (Mus musculus 1.). Nature (Lond.) 190, 372 (1961)

    Google Scholar 

  33. Lyon, M. F., Searle, A. G., Ford, C. E.: A mouse translocation suppressing sex-linked variegation. Cytogenetics 3, 306 (1964)

    Google Scholar 

  34. Mann, J. D., Valdmanis, A., Capps, S. C., Puite, R. H.: A case of primary amenorrhoea with a translocation involving chromosomes of groupes B and C. Amer. J. hum. Genet. 17, 377 (1965)

    Google Scholar 

  35. Miller, O. J.: The sex chromosome anomalies. Advances in obstetrics and gynecology, S. T. Marcus and C. C. Marcus, Eds. Baltimore: Williams and Wilkins 1967

    Google Scholar 

  36. Mikkelsen, M., Dahl, G.: Unbalanced X autosomal translocation with inactivation of normal X chromosome. Cytogenetics 12, 357 (1973)

    Google Scholar 

  37. Mukherjee, D., Burdette, W. J.: Multiple congenital anomalies associated with a ring 3 chromosome and translocated 3/X chromosome. Nature (Lond.) 212, 153 (1966)

    Google Scholar 

  38. Neuhauser, G., Back, F.: X-autosome Translokation bei einem Kind mit multiplen Mißbildungen. Humangenetik 3, 300 (1967)

    Google Scholar 

  39. Ohno, S., Cattenach, B. M.: Cytological studies of an X-autosome translocation in Mus musculus. Cytogenetics 1, 129 (1962)

    Google Scholar 

  40. Ohno, S., Lyon, M. F.: Cytological study of Searle's X-autosome translocation in Mus musculus. Chromosoma (Berl.) 16, 90 (1965)

    Google Scholar 

  41. Pfeiffer, R. A., Buchner, T.: Absence of late replication of a human X-ring chromosome. Nature (Lond.) 204, 804 (1964)

    Google Scholar 

  42. Quichaud, J., De Grouchy, J., Vitse, M., Emerit, I., Dubreuil, A.: Syndrome de Turner 45,X/46,XXq+. Ann. Endocr. 35, 1153 (1971)

    Google Scholar 

  43. Russel, L. B.: Mammalian X-chromosome action: inactivation limited in spread and in region of origin. Science 140, 976 (1963)

    Google Scholar 

  44. Russel, L. B., Montgomery, C. L.: Comparative studies on X-autosome translocations in the mouse. I. Origin, viability, fertility and weight of five t (X;1)'s. II. Inactivation of autosomal loci segregation and mapping of autosomal break points in five t (X;1)'s. Genetics 63, 103 (1969)

    Google Scholar 

  45. Sarto, G. E., Therman, E., Pätau, K.: X-inactivation in man: a woman with t (Xq-; 12 q+). Amer. J. hum. Genet. 25, 262 (1973)

    Google Scholar 

  46. Schmid, W.: Autoradiographic of human chromosome. Human chromosome methodology. New York-London: Academic Press 1965

    Google Scholar 

  47. Sinha, A. K., Nora, J. J.: Evidence for X/X chromosome translocation in humans. Ann. hum. Genet. 33, 117 (1969)

    Google Scholar 

  48. Thelen, T. H., Abrams, D. J., Fisch, R. O.: Multiple abnormalities due to possible genetic inactivation in a X/autosome translocation. Ann. J. hum. Genet. 23, 410 (1971)

    Google Scholar 

  49. Thorburn, M. J., Miller, C. G., Dovey, P.: Anomalies of development in a girl with unugual sex chromosomal mosaicism. J. med. Genet. 4, 283 (1967)

    Google Scholar 

  50. Thorburn, M. J., Martin, P. A., Pathak, U. N.: Case report possible X/autosomal translocation in a girl with gonadal dysgenesis. J. med. Genet. 7, 402 (1970)

    Google Scholar 

  51. Wie Lie, C., Coenegracht, J. M., Stalder, G.: A very large metacentric chromosome in a woman with symptoms of Turner's syndrom. Cytogenetics 3, 427 (1964)

    Google Scholar 

  52. Zakharov, A. F., Egolina, N. A.: Differential spiralization along mammalian mitotic chromosomes. I. BUDR revealed differentiation in Chinese hamster chromosomes. Chromosoma (Berl.) 38, 341 (1972)

    Google Scholar 

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Authors and Affiliations

  1. Laboratoire de cytogénétique, Centre Régional de Transfusion Sanguine, Nancy

    S. Gilgenkrantz & G. Mauuary

  2. Institut de Progénèse, Paris

    B. Dutrillaux

  3. Metz

    G. Masocco

Authors
  1. S. Gilgenkrantz
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  2. G. Mauuary
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  3. B. Dutrillaux
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  4. G. Masocco
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Gilgenkrantz, S., Mauuary, G., Dutrillaux, B. et al. Translocation X sur autosome et replication tardive. Hum Genet 26, 25–34 (1975). https://doi.org/10.1007/BF00280282

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  • DOI: https://doi.org/10.1007/BF00280282

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