Skip to main content
Log in

Chromosomenbefunde bei Ehepaaren mit gehäuften Aborten

Chromosome studies in couples with repeated abortions

  • Published:
Archiv für Gynäkologie Aims and scope Submit manuscript

Summary

In a non-selected group of 26 women with 3 or more abortuses and 17 of the repective husbands chromosomes from lymphocyte cultures were investigated. 6 persons were found to have abnormal chromosomes: In 3 women variations in the length of autosomes was found (46,XX,Gp+; 46,XX,Gp−; 46,XX,Cq+). One woman showed a trisomy C mosaicism in 4% of the analysed cells. A second one had in 4% of the mitoses a translocation mosaic with a B/D-translocation (46,XX/46,XX,t(Bq+; Dq−)). Another woman with normal karyotype showed in 3 different analyses an increased rate of secondary chromosome aberrations with a high percentage of exchanges.

Zusammenfassung

Bei einem unausgelesenen Kollektiv von 26 Frauen mit 3 und mehr Aborten und 17 dazugehörigen Ehemännern wurden die Chromosomen aus Leukocytenkulturen untersucht. Dabei wurden bei 6 Personen abnorme Befunde erhoben: Bei 3 Frauen waren Längenvariationen an Autosomen vorhanden (46,XX,Gp+; 46,XX,Gq−; 46,XX,Cq+). Eine Patientin wies in 4% der ausgewerteten Zellen ein Trisomie C-Mosaik auf, eine andere ein Translokationsmosaik, wobei in 4% der Zellen eine B/D-Translokation vorlag [46,XX/46,XX,t(Bq+; Dq−)]. Eine weitere Patientin mit einem normalen Karyotyp hatte bei insgesamt 3 Analysen eine erhöhte Rate sekundär gestörter Chromosomen mit einem hohen Anteil von Austauschereignissen.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Similar content being viewed by others

Literatur

  • Bishun, N. P., Morton, W. R. M.: Chromosome studies on women who have had two or more unsuccessful pregnancies. J. Obstet. Gynaec. Brit. Cwlth.75, 66 (1968).

    Google Scholar 

  • Cooper, H. L., Hirschhorn, K.: Enlarged satellites as a familial chromosome marker. Amer. J. hum. Genet.14, 107 (1962).

    Google Scholar 

  • Court Brown, W. M., Buckton, K. E., Jacobs, P. A., Tough, I. M., Kuensberg, E. V., Knox, J. D. E.: Chromosome studies on adults. London: Cambridge University Press 1966.

    Google Scholar 

  • Dutrillaux, B., Lejeune, J.: Etude de la descendance des individus porteurs d'une translocation t(DqDq). Ann. Génét.13, 11 (1970).

    Google Scholar 

  • Emerit, I., Boué, J., Dutrillaux, B., Prieur, M., Lejeune, J.: Etude autoradiographique de deux translocations t(DqDq) familiales. Ann. Génét.12, 94 (1969).

    Google Scholar 

  • Golob, E., Kunze-Mühl, E.: Chromosomenbefunde bei Frauen mit wiederholten Fehlgeburten und mißgebildeten Früchten. Wien. klin. Wschr.38, 668 (1971).

    Google Scholar 

  • Grouchy, de J., Grippa, L., German, J.: Etudes autoradiographiques des chromosomes humains. VII. Cinq observations de t(DqDq) familiales. Ann. Génét.13, 19 (1970).

    Google Scholar 

  • Jacobs, P. A.: Chromosome studies in the general population. In: R. J. C. Harris, ed., Cytogenetics of cells in culture. New York-London: Academic Press 1964.

    Google Scholar 

  • Jacobs, P. A., Aitken, J., Frackiewicz, A., Law, P., Newton, M. S., Smith, P. G.: The inheritance of translocations in man: data from families ascertained through a balanced heterozygote. Ann. hum. Genet.34, 119 (1970).

    Google Scholar 

  • Kadotani, T., Ohama, K.: Aberrant karyotypes and spontaneous abortions in a Japanese family. Nature (Lond.)225, 735 (1970).

    Google Scholar 

  • Kadotani, T., Ohama, K., Sato, H.: A chromosome survey in 71 couples with repeated spontaneous abortions and stillbirths. Proc. Japan. Acad.45, 180 (1969).

    Google Scholar 

  • Knörr, K., Knörr-Gärtner, H., Uebele-Kallhardt, B.: Beispiel für die Bedeutung zytogenetischer Untersuchungen bei habituellen Aborten. Geburtsh. u. Frauenheilk.29, 792 (1969).

    Google Scholar 

  • Kono, S., Maruyama, W.: A cytogenetic study of D/D-translocation in two families. Jap. J. hum. Genet.13, 285 (1969).

    Google Scholar 

  • Lucas, M.: Translocation between both members of chromosome pair number 15 causing recurrent abortions. Ann. hum. Genet.32, 347 (1969).

    Google Scholar 

  • Migeon, B. R.: Familial variant autosomes: new human cytogenetic markers. Bull. Johns Hopk. Hosp.116, 398 (1965).

    Google Scholar 

  • Moore, M. K., Engel, E.: Clinical, cytogenetic and autoradiographic studies in 10 cases with rare chromosome disorders. I. Cases 1 and 2. Ann. Génét.12 263 (1969).

    Google Scholar 

  • Moorhead, P. S., Nowell, P. C., Mellman, W. J., Battips, D. M., Hungerford, D. A.: Chromosome preparations of leukocytes cultured from human peripheral blood. Exp. Cell Res.20 613 (1960).

    Google Scholar 

  • Pergament, E., Kadotani, T., Sato, H.: Chromosome studies in repeated spontaneous abortions and stillbirths. Amer. J. Obstet. Gynec.100, 912 (1968).

    Google Scholar 

  • Philip, J., Frydenberg, V., Sele, V.: Enlarged chromosome No. 1 in a patient with primary amenorrhoea. Cytogenetics4, 329 (1965).

    Google Scholar 

  • Rott, H.-D., Schwanitz, G., Grosse, K.-P., Alexandrow, G., Hägele, Ch.: C11/D13-translocation in four generations. Humangenetik14, 300 (1972).

    Google Scholar 

  • Rowley, P. T., Marshall, R., Ellis, J. R.: A genetical and cytological study of repeated spontaneous abortion. Ann. hum. Genet.27, 87 (1963).

    Google Scholar 

  • Schmid, W.: A familial chromosome abnormality associated with repeated abortions. Cytogenetics1 199 (1962).

    Google Scholar 

  • Stenchever, M. A., Jarvis, J. A., Macintyre, M. N.: Cytogenetics of habitual abortion. Obstet. Gynec.32, 548 (1968).

    Google Scholar 

  • Who: Geneva Conference: Standardization of procedures for chromosome studies in abortion. Cytogenetics5, 361 (1966).

    Google Scholar 

  • Wieczorek, V.: Chromosomen-Anomalien als Ursache von Fehlgeburten. München: W. Goldmann 1971.

    Google Scholar 

  • Wilson, J. A.: A prospective, cytogenetic study of recurrent abortion. J. med. Genet.6, 5 (1969).

    Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Additional information

Herrn Professor Dr. G. Koch zum 60. Geburtstag (7. 2. 1973) gewidmet.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Rott, H.D., Richter, E., Rummel, W.D. et al. Chromosomenbefunde bei Ehepaaren mit gehäuften Aborten. Arch. Gynak. 213, 110–118 (1972). https://doi.org/10.1007/BF00667668

Download citation

  • Received:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00667668

Navigation