Summary
Description is given of a female child with tertiary partial 14 trisomy (+14q-) due to non-disjunction of one of the translocation products in the mother, who presents an apparently balanced 14/19 translocation.
Zusammenfassung
Beschreibung eines weiblichen Kindes mit einer tertiären partiellen Trisomie 14 (+14q-) infolge einer Non-disjunction eines der zwei Translokationschromosome in der Mutter, Träger einer balancierten 14/19-Translokation.
References
Allerdice, P., Miller, O. J., Miller, D. A., Breg, W. R., Gendel, E., Zelson, C.: Familial translocation involving chromosomes 6, 14 and 20 identified by quinacrine-fluorescence. Humangenetik 13, 205–209 (1971)
Beyer, R., Ruch, J. V., Rumpler, Y., Girard, J.: Observation d'un enfant débile mental et polymalformé dont le caryotype montre la présence d'un petit extra-chromosome médiocentrique. Pédiatrie 23, 439–442 (1968)
Breg, W. R.: Quinacrine fluorescence for identifying metaphase chromosomes, with special reference to photomicrography. Stain Technol. 47, 87–93 (1972)
Borgaonkar, D. S., Mc Kusick, V. A., Farber, Ph. A.: An inherited small extra-chromosome: a mother with 46,XX,t(17,22) (pl,ql) and a son with 47,XY, + der (22) mat. J. med. Genet. 10, 379–383 (1973)
De la Chapelle, A., Koivisto, M., Schroder, J.: Segregating reciprocal (4,21) (q21,q21) translocation with proposita trisomic for parts of 4q and 21. J. med. Genet. 10, 384–389 (1973)
Endo, A., Shimada, T.: A case of tertiary trisomy due to C/C translocation in the mother. Jap. J. hum. Genet. 17 (1), 44–49 (1972)
Fryns, J. P., Eggermont, E., Verresen, H., Van den Berghe, H.: A newborn with the cat-eye syndrome. Humangenetik 15, 242–248 (1972)
Gerald, P. S., Davis, C., Say, B. M., Wilkins, J. L.: A novel chromosomal basis for imperforate anus (the cat's eye syndrome). Pediat. Res. 2, 297 (1968)
Hauschteck, E., Murset, G., Prader, A., Buhler, E.: Siblings with different types of chromosomal aberrations due to D/E translocation of the mother. Cytogenetics 5, 281–294 (1966)
Jacobs, P. A.: Human population cytogenetics. In: Proceedings of the fourth International Congress of Human Genetics, de Grouchy, J., Ebling, F. J. G., Henderson, I. W., Eds., pp. 242–252. Amsterdam: Excerpta Medica 1972
Jacobsen, P., Dupont, A., Mikkelsen, M.: Translocation in the 13–15 group as a cause of partial trisomy and spontaneous abortion in the same family. Lancet 1963 II, 584–585
Jacobsen, P., Mikkelsen, M., Froland, A., Dupont, A.: Familial transmission of a translocation between two non-homologous large acrocentric chromosomes. Clinical cytogenetic and autoradiographic studies. Ann. hum. Genet. 29, 391–402 (1966)
Kajii, T., Ohama, K., Ferrier, A.: Trisomy 14 in spontaneous abortus. Humangenetik 15, 265–267 (1972)
Laurent, C., Dutrillaux, B., Biemont, M. Cl., Genoud, J., Bethenod, M.: Translocation t(14q-, 21q+) chez le père. Trisomie 14 et monosomie 21 partielles chez la fille. Ann. Génét. 16, 281–284 (1973)
Mac Intyre, M. N., Walden, D. B., Hempel, J. M.: Tertiary trisomy in a human kindred containing an E/G translocation. Amer. J. hum. Genet. 23, 431–441 (1971)
Miller, J. R., Dill, F. J., Corey, M. J., Rigg, J. M.: A rare translocation (47,XY,t(2p-, 21q+), 21+)association with Down's syndrome. J. med. Genet. 7, 389–393 (1970)
Murken, J. D., Bauchinger, M., Palitzsch, D., Pfeifer, H., Sushke, J., Haendle, H.: Trisomie D2 bei einem 2,5jährigen Mädchen (47,XX,14+). Humangenetik 10, 254–268 (1970)
Nielsen, J., Tsuboi, T., Friedrich, U., Mikkelsen, M., Lund, B., Steinicke, O.: Additional small acrocentric chromosome: two cases. J. ment. Defic. Res. 13, 106–112 (1969)
Pfeiffer, R. A., Buttinghaus, V., Struck, H.: Partial trisomy 14 following a balanced reciprocal translocation t(14q-, 21q+). Humangenetik 20, 187–189 (1973)
Reiss, J. A., Wyandt, H. E., Magenis, R. E., Hecht, F.: Mosaicism with translocation: autoradiographic and fluorescent studies of an inherited reciprocal translocation t(2q+, 14q-). J. med. Genet. 9, 280–286 (1972)
Schachenmann, G., Schmid, W., Fraccaro, M., Mannini, A., Tiepolo, L., Perona, G. P., Sartori, E.: Chromosomes in coloboma and anal atresia. Lancet 1965 II, 290
Short, E. M., Solitare, G. B., Breg, W. R.: A case of partial 14 trisomy 47,XY,(14q-)+ and translocation t(9p+, 14q-) in mother and brother. J. med. Genet. 9, 367–373 (1972)
Vislie, H., Wehn, M., Brogger, A., Mohr, J.: Chromosome abnormalities in a mother and two mentally retarded children. Lancet 1962 II, 76–78
Zellweger, H., Mikamo, K., Abbo, G.: Two cases of multiple malformations with an autosomal chromosomal aberration—partial trisomy D? Helv. paediat. Acta 17, 290 (1962)
Author information
Authors and Affiliations
Additional information
Aided by contract 20.122 F. W. G. O. Belgium.
Rights and permissions
About this article
Cite this article
Fryns, J.P., Cassiman, J.J. & Van den Berghe, H. Tertiary partial 14 trisomy 47, XX, +14q-. Hum Genet 24, 71–77 (1974). https://doi.org/10.1007/BF00281111
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF00281111