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.
Similar content being viewed by others
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)
Chapelle, A. de la, Stenstrand, K.: Dicentric human X chromosomes. Hereditas 76, 259–268 (1974)
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)
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)
Funderburk, S. J., Sparkes, R. S., Klisak, I.: 18p- syndrome resulting from 14q/18q “dicentric” fusion translocation. Hum. Genet. 39, 243–250 (1977)
Giraud, F., Mattei, J. F., Lucas, C., Mattei, M. G.: Four new cases of dicentric Y chromosomes. Hum. Genet. 36, 249–260 (1977)
Grouchy, J. de, Royer, P., Salmon, C., Lamy, M.: Délétion partielle des bras longs du chromosome 18. Pathol. Biol. (Paris) 12, 579–582 (1964)
Howell, R. T., Roberts, S. H., Beard, R. J.: Dicentric X isochromosomes in man. J. Med. Genet. 13, 496–500 (1976)
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)
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)
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)
Niebuhr, E.: Unusual findings by fluorescence microscopy of a t(13q 14q). Humangenetik 15, 90–92 (1972a)
Niebuhr, E.: Dicentric and monocentric Robertsonian translocations in man. Humangenetik 16, 217–226 (1972b)
Niebuhr, E.: A 45,XX,-5,-13,dic+ karyotype in a case of cri-du-chat syndrome. Cytogenetics 11, 165–177 (1972c)
Niebuhr, E., Skovbay, F.: Cytogenetic studies in seven individuals with an i(Xq) karyotype. Hereditas 86, 121–128 (1977)
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)
Pfeiffer, R. A.: Sporadische autosomale Defizienz [45,XX,D2-,18-,t(D2 18)] bei einem 5jährigen Mädchen. Helv. Paediatr. Acta 24, 167–173 (1969)
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)
Schinzel, A., Hayashi, K., Schmid, W.: Structural aberrations of chromosome 18. II. The 18q-syndrome. Report of three cases. Humangenetik 26, 123–132 (1975)
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)
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)
Therman, E., Sarto, G., Patau, K.: Apparently isodicentric but functionally monocentric X chromosome in man. Am. J. Hum. Genet. 26, 83–92 (1974)
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)
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
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
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF00273275