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18q- Syndrome resulting from a tdic(14p;18q)

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Summary

A case of 18q- syndrome due to a de novo tdic(14p;18q) is presented. The interest of this observation lies in the rarity of stable dicentric chromosomes arising from reciprocal translocations between autosomes.

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References

  • Borgaonkar, D. S., Ebenezer, L., Scott, C. L., Jr., Colomb, H. M., Bahr, G. F.: Identification of D/E (15/18) translocation chromosome by quinacrine fluorescence and urea banding techniques. Humangenetik 17, 317–321 (1973)

    Google Scholar 

  • Chapelle, A. de la, Stenstrand, K.: Dicentric human X chromosomes. Hereditas 76, 259–268 (1974)

    Google Scholar 

  • Cohen, M. M., McGillivray, M. J., Capraro, V. G., Aceto, R. A.: Human dicentric Y chromosomes: case report and review of the literature. J. Med. Genet. 10, 74–79 (1973)

    Google Scholar 

  • Fujita, H., Tanigawa, Y., Yoshida, Y., Okada, Y.: Cytological findings in 10 cases with i(Xq) and one with dic(X)(qter→cent→p22::p11→qter). Hum. Genet. 39, 147–155 (1977)

    Google Scholar 

  • Funderburk, S. J., Sparkes, R. S., Klisak, I.: 18p- syndrome resulting from 14q/18q “dicentric” fusion translocation. Hum. Genet. 39, 243–250 (1977)

    Google Scholar 

  • Giraud, F., Mattei, J. F., Lucas, C., Mattei, M. G.: Four new cases of dicentric Y chromosomes. Hum. Genet. 36, 249–260 (1977)

    Google Scholar 

  • Grouchy, J. de, Royer, P., Salmon, C., Lamy, M.: Délétion partielle des bras longs du chromosome 18. Pathol. Biol. (Paris) 12, 579–582 (1964)

    Google Scholar 

  • Howell, R. T., Roberts, S. H., Beard, R. J.: Dicentric X isochromosomes in man. J. Med. Genet. 13, 496–500 (1976)

    Google Scholar 

  • Hsu, L. Y. F., Kim, H. J., Sujansky, E., Kouseff, B., Hirschhorn, K.: Reciprocal translocation versus centric fusion between two no. 13 chromosomes. A case of 46,XX,-13,+t(13;13) (p12;p13) and a case of 46,XY,-13,+t(13;13)(p12;p12). Cytogenetics 12, 235–244 (1973)

    Google Scholar 

  • Mattei, J. F., Taramasco, H., Mattei, M. G., Lucas, C., Giraud, F.: A girl with mosaicism for a dicentric X chromosome (45,X/46,X,dic(X)(Xqter→p22::p22→qter)). Hum. Genet. 38, 39–48 (1977)

    Google Scholar 

  • Nagakome, Y., Teramura, F., Kataoka, K., Hosono, F.: Mental retardation-malformation syndrome and partial 7p monosomy 45,XX,tdic(7;15)(p21;p11). Clin. Genet. 9, 621–624 (1976)

    Google Scholar 

  • Niebuhr, E.: Unusual findings by fluorescence microscopy of a t(13q 14q). Humangenetik 15, 90–92 (1972a)

    Google Scholar 

  • Niebuhr, E.: Dicentric and monocentric Robertsonian translocations in man. Humangenetik 16, 217–226 (1972b)

    Google Scholar 

  • Niebuhr, E.: A 45,XX,-5,-13,dic+ karyotype in a case of cri-du-chat syndrome. Cytogenetics 11, 165–177 (1972c)

    Google Scholar 

  • Niebuhr, E., Skovbay, F.: Cytogenetic studies in seven individuals with an i(Xq) karyotype. Hereditas 86, 121–128 (1977)

    Google Scholar 

  • Pallister, P. D., Patau, K., Inhour, S. L., Opitz, J. M.: A woman with multiple congenital anomalies, mental retardation, and mosaicism for an unusual translocation chromosome t(6;19). Clin. Genet. 5, 188–195 (1974)

    Google Scholar 

  • Pfeiffer, R. A.: Sporadische autosomale Defizienz [45,XX,D2-,18-,t(D2 18)] bei einem 5jährigen Mädchen. Helv. Paediatr. Acta 24, 167–173 (1969)

    Google Scholar 

  • Schinzel, A., Schmid, W., Luscher, U., Nater, M., Brook, C., Steinmann, B.: Structural aberrations of chromosome 18. I. The 18p- syndrome. Arch. Genet. (Zur.) 47, 1–15 (1974)

    Google Scholar 

  • Schinzel, A., Hayashi, K., Schmid, W.: Structural aberrations of chromosome 18. II. The 18q-syndrome. Report of three cases. Humangenetik 26, 123–132 (1975)

    Google Scholar 

  • Singh-Kahlon, D. P., Serra, A., Bova, R.: A complex mosaic with D/E translocation t dic(15;18) (p12;p11) in an oligospermic male with apparently total infertility. Clin. Genet. 11, 342–348 (1977)

    Google Scholar 

  • Thelen, T. H., Abrams, D. J., Fish, R. O.: Multiple abnormalities due to possible genetic inactivation in an X/autosome translocation. Am. J. Hum. Genet. 23, 410–418 (1971)

    Google Scholar 

  • Therman, E., Sarto, G., Patau, K.: Apparently isodicentric but functionally monocentric X chromosome in man. Am. J. Hum. Genet. 26, 83–92 (1974)

    Google Scholar 

  • Warburton, D., Henderson, A. S., Shapiro, L. R., Hsu, L. Y. F.: A stable human dicentric chromosome t dic(12;14)(p13;p13), including an intercalary satellite region between centromeres. Am. J. Hum. Genet. 25, 439–445 (1973)

    Google Scholar 

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Lambert, J.C., Ferrari, M., Bergondi, C. et al. 18q- Syndrome resulting from a tdic(14p;18q). Hum Genet 48, 61–66 (1979). https://doi.org/10.1007/BF00273275

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  • DOI: https://doi.org/10.1007/BF00273275

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