Summary
A female newborn with full triploidy and multiple malformations, who survived for 2 months, is presented. In all examined lymphocytes and fibroblasts a 69,XXX karyotype was found. Banding studies showed the presence of one 9qh in the mother and two 9qh chromosomes in the child, indicating that the triploidy arose from the failure to expel the second polar body.
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Al Saadi, A., Juliar, J., Harm, J., Brough, A. J., Perrin, E. V., Chen, H.: Triploidy syndrome. A report on two liverborn (69,XXY) and one stillborn (69,XXX) infants. Clin. Genet. 9, 43–50 (1976)
Arakaki, D. T., Waxman, S. H.: Chromosome abnormalities in early spontaneous abortions. J. med. Genet. 7, 118–124 (1970)
Beischer, N. A., Fortune, D. W., Fitzgerald, M. G.: Hydatiform mole and coexistent foetus, both with triploid chromosome constitution. Brit. med. J. 1967 III, 476–478
Boué, J. G., Boué, A., Lazar, P.: The epidemiology of human spontaneous abortions with chromosomal anomalies. Symposium on the Biology and Pathology of ageing gametes, Washington 1973
Boué, J. G., Boué, A.: Les avortements spontanés humains. Etudes cytogénétiques et épidémiologiques. Rev. franç. Gynéc. 68, 11, 625–643 (1973)
Bowen, P., Lee, C. S. N.: Chromosome studies on 41 cases and an analysis of maternal age and duration of pregnancy in relation to karyotype. Amer. J. Obstet. Gynec. 104, 973–983 (1969)
Butler, L. J., Chantler, C., France, N. E., Keith, C. G.: A liveborn infant with complete triploidy (69,XXX). J. med. Genet. 6, 413–421 (1969)
Carr, D. H.: Chromosome studies in selected spontaneous abortions. Polyploidy in man. J. med. Genet. 8, 164–174 (1971)
Creasy, M. R., Crolla, J. A., Alberman, E. D.: A cytogenetic study of human spontaneous abortions using banding techniques. Hum. Genet. 31, 177–196 (1976)
Dewald, G., Alvarez, M. N., Cloutier, M. D., Kelalis, P. P., Gordon, H.: A diploid-triploid human mosaic with cytogenetic evidence of double fertilization. Clin. Genet. 8, 149–160 (1975)
Dhadial, R. K., Machin, A. M., Tait, S. M.: Chromosomal anomalies in spontaneously aborted human foetuses. Lancet 1970 II, 20–21
Edwards, J. H., Yuneken, C., Rushton, D. I., Richards, S., Mittwoch, U.: Three cases of triploidy in man. Cytogenetics 6, 81–104 (1967)
Ellis, J. R., Marshall, R., Normand, I. C. S., Penrose, L. S.: A girl with triploid cells. Nature (Lond.) 198, 411 (1963)
Finley, W. H., Finley, S. C., Green, M. B., Bush, S. T.: Triploidy in a live-born male infant. J. Pediat. 81, 855–856 (1972)
Gosden, L. M., Wright, M. O., Paterson, W. G., Grant, K. A.: Clinical details, cytogenetic studies and cellular physiology of a 69,XXX foetus with comments on the biological effect of triploidy in man. J. med. Genet. 13, 371–380 (1976)
Grouchy, J. de, Roubin, M., Risse, J. C., Sarrut, S.: Enfant triploide (69,XXX) ayant vécu neuf jours. Ann. Génét. 17, 283–286 (1974)
Jonasson, J., Therkelsen, A. J., Lauritsen, J. G., Lindsten, J.: Origin of triploidy in human abortuses. Hereditas (Lund) 71, 168–171 (1972)
Kajii, T., Ohama, K., Niikawa, N., Ferrier, A., Avirachan, S.: Banding analysis of abnormal karyotypes in spontaneous abortion. Amer. J. hum. Genet. 25, 539–547 (1973)
Kajii, T., Niikawa, N.: Origin of triploidy and tetraploidy in man: 11 cases with chromosome markers. V. International Congress of human Genetics, Abstract 344, Mexico, October 10–15 (1976)
Keutel, J., Dollmann, A., Munster, W.: Triploidie (69,XXY) bei einem lebend geborenen Kind. Z. Kinderheilk. 109, 104–117 (1970)
Kuliev, A. M.: Cytogenetic investigation of spontaneous abortions. Humangenetik 12, 275–285 (1971)
Lindsley, D. L., Sandler, L.: Segmental aneuploidy and the gross structure of the Drosophila genome. Genetics 71, 157–184 (1972)
Leisti, J., Raivio, K. O., Rapola, J., Saksela, E., Aula, P.: Triploidy in a newborn infant: a new syndrome in man? Abstract, Scand. J. clin. Lab. Invest. 25, suppl. 113, 60 (1970)
Makimo, S., Ikeuchi, T., Sasaki, M., Muramoto, J., Shimba, H., Fujimoto, S., Matsuda, S.: A preliminary study of the chromosomes in spontaneous abortions. Proc. Jap. Acad. 43, 552–555 (1967)
Niebuhr, E.: Triploidy in man. Cytogenetical and clinical aspects. Humangenetik 21, 103–125 (1974)
Opitz, J. M., Zurhein, G. M., Vitale, L., Shahidi, N. T., Howe, J. J., Ming Chou, S., Shanklin, D. R., Sybers, H. D., Dood, A. R., Gerritsen, T.: The Zellweger syndrome (cerebro-hepatorenal syndrome). Birth Defects 2, 144–158 (1969)
Paterson, W. G., Hobson, B. M., Smart, G. E., Bain, A. D.: Two cases of hydatiform degeneration of the placenta with fetal abnormality and triploid chromosome constitution. J. Obstet. Gynec. 78, 136–142 (1971)
Prats, J., Saralt, E., Moragas, A., Martin, C.: Triploid live full-term infant. Helv. paediat. Acta 2, 164–172 (1971)
Rashad, M. N., Kerr, M. G.: A human triploid embryo. J. Anat. 100, 928 (1966)
Schindler, A. M., Mikamo, M.: Triploidy in man. Cytogenetics 9, 116–130 (1970)
Schmickel, R. D., Silverman, E. M., Floyd, A. D., Payne, F. E., Posley, J. M., Beck, M. L.: A live-born infant with 69 chromosomes. J. Pediat. 79, 97–103 (1971)
Shepaad, T. H., Gartler, S. M., Lagerberg, E. V., Price, B.: Chromosome aberrations in 2 embryos from the same mother. Amer. J. Obstet. Gynec. 102, 48–52 (1968)
Simpson, J. L., Dische, R., Morillo-Lucci, G., Connolly, L. E.: Triploidy (69,XXY) in a liveborn infant. Ann. Génét. 15, 103–106 (1972)
Smith, M., MacNab, J., Ferguson-Smith, M. A.: Cell culture technics for cytogenetic investigation of human abortus material. Obstet. and Gynec. 33, 313–323 (1969)
Szulman, A. E.: Chromosomal aberrations in spontaneous human abortions. New Engl. J. Med. 272, 811–818 (1965)
Therkelsen, A. J., Grunnet, N., Hjort, T., Myhre Jensen, O., Jonasson, J., Lauritsen, J. G., Lindsten, J., Bruun Petersen, G.: Studies on spontaneous abortions. In: Chromosomal errors in relation to reproductive failure, A. Boué, C. Thibault, ed., pp. 81–94. Paris: INSERM 1973
Thiede, H. A., Metcalf, S.: Chromosomes and human pregnancy wastage. Amer. J. Obstet. Gynec. 96, 1102–1138 (1966)
Uchida, I. A., Lin, C. C.: Identification of triploid genome by fluorescence microscopy. Science 176, 304–305 (1972)
Walker, S., Andrews, J., Gregson, N. M., Gault, W.: Three further cases of triploidy in man surviving to birth. J. med. Genet. 10, 135–141 (1973)
Wieczorek, V.: Chromosomenuntersuchungen an Spontanaborten. Dtsch. med. Wschr. 49, 2307–2372 (1968)
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Fryns, J.P., van de Kerckhove, A., Goddeeris, P. et al. Unusually long survival in a case of full triploidy of maternal origin. Hum Genet 38, 147–155 (1977). https://doi.org/10.1007/BF00527396
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DOI: https://doi.org/10.1007/BF00527396