Springer Nature is making SARS-CoV-2 and COVID-19 research free. View research | View latest news | Sign up for updates

Trisomy 12p due to familial t(12p-,6q+) translocation

  • 32 Accesses

  • 2 Citations

Summary

A malformed newborn is described with a trisomy of almost the entire short arm of chromosome number 12 with a balanced 12/6 translocation in the father.

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

References

  1. Bargman, G. I., Neu, R. L., Powers, H. O., Gardner, L. I.: A 46, XX, t(Cp+, Cq-) translocation in a girl with multiple congenital anomalies and in her phenotypically normal father 46, XY, t(Cp+, Cq-). J. med. Genet. 7, 77–80 (1970)

  2. Buhler, V. K., Buhler, E., Sartorius, J., Stalder, G. R.: Multiple Mißbildungen bei partieller Trisomie C (12) als Manifestation einer erblichen E/C (18/12)-Translocation. Helv. paediat. Acta 22, 41–53 (1967)

  3. Butler, L. J., Eades, S. M., France, N. E.: Transmission of a translocation t(Cp+, Dq-) through three generations. Including an example of probable trisomy for the short arm of the C-group chromosome n° 9. Ann. Génét. 12, 15–27 (1969)

  4. Cantu, J. M., Buentello, L., Armendares, S.: Trisomie Cp: un nouveau syndrome. Ann. Génét. 14, 177–186 (1971)

  5. Cooke, P., Page, A. P. M.: New translocation in three generations of a family. J. med. Genet. 5, 200–204 (1968)

  6. Deminatti, M., Maillard, E. M., Gosselin, B., Peltier, J. M., Bulteel, M. F., Dupuis, C.: Trisomie partielle C par translocation t(Cp-, Gp+). Ann. Génét. 12, 36–45 (1969)

  7. Falk, R. E.: Partial trisomy of chromosome 11: a case report. Amer. J. ment. Defic. 77, 383–388 (1973)

  8. Grouchy, J. de, Canet, J.: Translocation 6-12/13-15 et trisomie partielle 6-12 (probablement 10). Ann. Génét. 8, 17–20 (1965)

  9. Grouchy, J. de, Emerit, I., Aicardi, J.: Trisomie partielle pour le bras long d'un C (? 6) par translocation t(Gp+, Cqs+). Ann. Génét. 12, 133–137 (1969)

  10. Grouchy, J. de, Finaz, C., Roubin, M., Roy, J.: Deux translocations familiales survenues ensemble chez chacune de deux soeurs, l'une équilibrée, l'autre trisomique partielle 10q. Ann. Génét. 15, 85–92 (1972)

  11. Grouchy, J. de, Thieffry, S., Aicardi, J., Chevrie, J. J., Zucker, G.: Trisomie partielle C par translocation t(Cq-, Dp+) et remaniement d'un C(p-p+). Arch. franç. Pédiat. 24, 859–868 (1967)

  12. Hoehn, H., Engel, W., Reinwein, H.: Presumed trisomy for the short arm of chromosome n° 9 not due to inherited translocation. Humangenetik 12, 175–181 (1971)

  13. Endo, A., Shimada, T.: A case of tertiary trisomy due to C/C translocation in the mother. Jap. J. hum. Genet. 17, 44–49 (1972)

  14. Laurent, C., Bovier-Lapierre, M., Dutrillaux, B.: Trisomie 10 partielle par translocation familiale t(1, 10) (q 44, q22). Humangenetik 18, 321–327 (1973)

  15. Lejeune, J., Berger, R., Rethore, M. O., Salmon, Ch., Kaplan, M.: Translocation Cc/F familiale déterminant une trisomie pour le bras court du chromosome 12. Ann. Génét. 9, 12–18 (1966)

  16. Lejeune, J., Rethore, M. O., Berger, R., Abonyi, D., Dutrillaux, B., See, G.: Trisomie C partielle par translocation familiale t(Cq+, Cq-). Ann. Génét. 11, 171–175 (1968)

  17. Lindsten, J., Fraccaro, M., Klinger, H. P., Etterqvist, P.: Meiotic and mitotic studies of a familial reciprocal translocation between two autosomes of group 6–12. Cytogenetics 4, 45–64 (1964)

  18. Mc Dermott, A., Insley, J., Rushton, D. I., Edward, J.: Two familial translocations involving the 6–12 group with meiotic studies in one. Teratology 1, 135–152 (1968)

  19. Punnett, H. H., Pinsky, L., Digeorge, A. M., Gorlin, R. J.: Familial reciprocal C/18 translocation. Amer. J. hum. Genet. 18, 572–583 (1966)

  20. Rethore, M. O., Hoehn, H., Rott, H. D., Couturier, J., Dutrillaux, B., Lejeune, J.: Analyse de la trisomie 9 p par dénaturation ménagée. A propos d'un nouveau cas. Humangenetik 18, 129–138 (1973)

  21. Rethore, M. O., Larget-Piet, L., Abonyi, D., Boeswillwald, M., Berger, R., Carpentier, S., Cruveiller, J., Dutrillaux, B., Lafourcade, J., Penneau, M., Lejeune, J.: Sur quatre cas de trisomie pour le bras court du chromosome 9. Individualisation d'une nouvelle entité morbide. Ann. Génét. 13, 217–232 (1970)

  22. Rohde, R. A., Catz, B.: Maternal transmission of a new group C (6/9) chromosomal syndrome. Lancet 1964 II, 838–840

  23. Rott, H. D., Chwanitz, G., Grosse, K. P.: Partielle Trisomie Cq bei balancierter B 4/C 9-Translokation bei der Mutter. Z. Kinderheilk. 109, 293–299 (1971)

  24. Stahl, A., Luciani, J. M., Nicolino, J., Mattei, A., Vague, J.: Hypotrophie testiculaire primitive; caryotype XY avec translocation 12-10. Ann. Endocr. (Paris) 27, 155–150 (1966)

  25. Thorburn, M. J., McNeil Smith-Read, E. H., Peck, J. E.: A translocation t(Bq+, Cq-) in a West India family and a report of a second family showing a possible long arm group B translocation. Arch. Dis. Childh. 44, 106–112 (1969)

  26. Uchida, I. A., Lin, C. C.: Identification of partial 12 trisomy by quinacrine fluorescence. J. Pediat. 82, 269–272 (1973)

Download references

Author information

Additional information

Aided by contract No. 20. 122 F.W.G.O. Belgium.

Rights and permissions

Reprints and Permissions

About this article

Cite this article

Fryns, J.P., Van den Berghe, H., Van Herck, G. et al. Trisomy 12p due to familial t(12p-,6q+) translocation. Hum Genet 24, 247–252 (1974). https://doi.org/10.1007/BF00283594

Download citation

Keywords

  • Internal Medicine
  • Metabolic Disease
  • Chromosome Number