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A Case of Trisomy 8

Published online by Cambridge University Press:  01 August 2014

B. Dallapiccola ,
P. E. Gallenga ,
A. Pinca  and
L. Capra
B. Dallapiccola*
Affiliation:
Medical Clinic, University of Ferrara, Italy
P. E. Gallenga
Affiliation:
Department of Ophthalmology, University of Ferrara, Italy
A. Pinca
Affiliation:
Department of Pediatrics, University of Ferrara, Italy
L. Capra
Affiliation:
Medical Clinic, University of Ferrara, Italy
*
Cattedra di Genetica Medica, Università di Roma, c/o Ospedale L. Spallanzani, Via Portuense 292, 00149 Roma, Italy

Abstract

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A case of 8 trisomy syndrome, identified on the basis of the heat denaturation technique, has been detected in a patient with mental retardation, congenital malformations, and peculiar ocular anomalies. This observation confirms that, even without evidence of mosaicism, this chromosome does not seriously upset the viability of cells and could be less deleterious to the individual than trisomy 13, 18, or 21.

The mental development is not too much impaired and the skeletal abnormalities are mild, as compared to those found in previously reported cases. On the other hand, the cardiovascular system is involved and the ocular lesions are complex. They include prominent eyes, epicanthus, hypertelorism, antimongoloid slant of palpebral fissures, ectopia of lacrimal point, megalocornea, enlarged iridocorneal angle, subatrophic papilla, tortuosities of retinal vessels, absence of deep perception.

Type
6. Free Contributions: Second Group
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 23 , supplement S1 , January 1974 , pp. 253 - 258
Copyright
Copyright © The International Society for Twin Studies 1974

References

REFERENCES

Bargman, G., Neu, R., Kajii, T., Leao, J., Gardner, L. 1967. Trisomy C mosaicism in a seven month old girl. Hum. Genet., 4: 13–17.Google Scholar
Boué, J. G., Boué, A. 1969. Fréquence des aberrations chromosomiques dans les avortements spontaneés humains. C. R. Acad. Sci. (Paris), 269: 283–288.Google Scholar
Caspersson, T., Lindsten, J., Zech, L., Buckton, K. E., Price, W. H. 1972. Four patients with trisomy 8 identified by the fluorescence and Giemsa banding techniques. J. Med Genet., 9: 1–7.CrossRefGoogle ScholarPubMed
Coryell, M. E., Hall, W. K., Thevaos, T. G., Welter, D. A., Gatz, A. J., Horton, B. F., Sisson, B. D., Looper, J. W., Farrow, R. T. 1694. A familial study of a human enzyme defect, argininosuccinic aciduria. Biochem. Biophys. Res. Commun., 14: 307–315.CrossRefGoogle Scholar
De Grouchy, J., Turleau, C., Leonard, C. 1971. Etude en fluorescence d'une trisomie C mosaïque, probablement 8: 46,XY/47,XY, ?8 +. Ann. Genet., 14: 69–72.Google Scholar
De la Chapelle, A., Wenstrom, J., Wasastjerna, C., Knutar, F., Stenman, U.H., Weber, T.H. 1970. Apparent C trisomy in bone marrow cells, report of two cases. Scand. J. Haematol., 7: 112–122.Google Scholar
Dutrillaux, B., Lejeune, J. 1971. Sur une nouvelle technique d'analyse du caryotype humain. C. R. Acad. Sci. (Paris), 272: 2638–2640.Google Scholar
El-Alfi, O., Powell, H., Biesele, J. 1963. Possible trisomy in chromosome group 6-12 in a mentally retarded patient. Lancet, 1: 700.Google Scholar
Emberger, J. M., Rey, J., Rieu, D., Dossa, D., Bonnet, H., Jean, R. 1970. Trisomie du groupe C (47, XX, C +). Arch. Fr. Pediatr., 27: 1081–1088.Google ScholarPubMed
Eys, J. van, Nance, W. E., Engel, E. 1970. C autosomal trisomy with mosaicism: a new syndrome? Pediatrics, 45: 665–671.CrossRefGoogle ScholarPubMed
Feingold, M., Atkins, L. 1973. A case of trisomy 9. J. Med. Genet., 10: 184–187.Google Scholar
Frezza, M., Perona, G., Vettore, L., Corrocher, R., De Sandre, G. 1968. Probabile mosaico di tipo “ normale/trisomia 6-12/monosomia 6-12” in una bambina ipoevoluta con lievi note dismorfiche. Folia Hered. Pathol., 17: 47–56.Google Scholar
Gustavson, K., Hagberg, B., Santesson, B. 1967. Mosaic trisomy of an autosome in the 6-12 group in a patient with multiple congenital anomalies. Acta Paediatr., 56: 681–686.CrossRefGoogle Scholar
Haslam, R. H. A., Broske, S. P., Moore, C. M., Thomas, G. H., Neill, C. A. 1973. Trisomy 9 mosaicism with multiple congenital anomalies. J. Med. Genet., 10: 180–183.Google Scholar
Hellström, K., Hagenfeldt, L., Larsson, A., Lindsten, P., Tiepolo, L. 1971. An extra C chromosome and various metabolic abnormalities in the bone marrow from a patient with refractory sideroblastic anaemia. Scand. J. Haematol., 8: 293–306.Google Scholar
Higurashi, M. Mashuyoshi, N., Matsui, I., Kamoshita, S. 1969. Two cases of trisomy C 6-12 mosaicism with multiple congenital malformations. J. Med. Genet., 6: 429–434.Google Scholar
Jacobs, P. A., Harnden, D. G., Buckton, K. E., Court Brown, W. M., King, M. J., MacBride, J. A., McGregor, T. N., MacLean, N. 1961. Cytogenetic studies in primary amenorrhoea. Lancet, 1: 1183–1189.Google Scholar
Jalbert, P., Jobert, J., Patet, J., Mouriquand, C., Roget, J. 1966. Un nouveau cas de trisomie présumée 6-12. Ann. Genet., 9: 109–112.Google ScholarPubMed
Juberg, R. C., Gilbert, E. F., Salisbury, R. S. 1970. Trisomy C in an infant with polycistic kidneys and other malformations. J. Pediatr., 76: 598–603.CrossRefGoogle Scholar
Kerr, M. G., Rashad, M. N. 1966. Autosomal trisomy in a discordant monozygotic twin. Nature (Lond.), 212: 726–727.Google Scholar
Kuliev, A. M. 1971. Cytogenetic investigation of spontaneous abortions. Humangenetik, 12 275–283.Google ScholarPubMed
Laurent, C., Robert, J. M., Grambert, J., Dutrillaux, B. 1971. Observations cliniques et cytogéné-tiques de deux adultes trisomiques C en mosaïque. Individualisation du chromosome surnuméraire par la technique moderne de denaturation: 47, XY, ?8 +. Lyon Med., 226: 827–833.Google Scholar
Lejeune, J., Dutrillaux, B., Rethorè, M. O., Berger, R., Debray, H., Veron, P., Gorce, F., Grossiord, A. 1969. Sur trois cas de trisomie C. Ann. Genet., 12: 28–35.Google Scholar
Longo, A., Maccani, U. 1966. Il corredo cromosomico nella spina bifida. Studio sulla ereditarietà e citogenetica di una famiglia. Aggiorn. Pediatr., 16: 393–406.Google Scholar
Maceck, M., Hord, M., Zemanova, H., Goetz, P. Seemanova, E., Salichova, J. 1972. A case of trisomy C in a newborn infant. Abst. Fifth Annual Meeting with International Participation (Brno, 09. 1972): 15.Google Scholar
Malpuech, G., Dutrillaux, B., Fonck, Y., Gaulme, J., Bouche, B. 1972. Trisomie 8 en mosaïque. Arch. Fr. Pediatr., 29: 853–859.Google Scholar
Monnet, P., Wilemin-Clog, L., Gauthier, J., Peytel, F., Laurent, M., Gay, Y., Poncet, J. 1967, La trisomie 6-12. A propos d'une observation en mosaïque. Arch. Fr. Pediatr., 24: 869–872.Google Scholar
Moore, M., Engel, E. 1970. Clinical, cytogenetic and autoradiographic studies in 10 cases with rare chromosome disorders. Ann. Genet., 13: 129–134.Google ScholarPubMed
Oikawa, K., Kajii, T., Shimba, H., Sasaki, M. 1969. 46, XY/47, XY, C + mosaicism in a male infant with multiple anomalies. Ann. Genet., 12: 102–106.Google Scholar
Pfeiffer, R., Shellong, G., Kosenow, W. 1962. Chromosomenanomalien in den Blutzellen eines Kindes mit multiples Abartungen. Klin. Wo-chenschr., 40: 1058–1067.Google Scholar
Riccardi, W. M., Atkins, L., Holmes, L. B. 1970. Absent patellae, mild mental retardation, skeletal and genitourinary anomalies, and C group autosomal mosaicism. J. Pediatr., 77: 664–672.Google Scholar
Schutt, W. 1966. In Drillien, C. M., Ingram, T. T. S. and Wilkinson, E. M. (eds.): The Causes and Natural History of Cleft Lip and Palate. London & Edinburgh: Livingstone.Google Scholar
Smith, D. W. 1964. Autosomal abnormalities. Am. J. Obstet. Gynecol., 90: 1055–1077.CrossRefGoogle ScholarPubMed
Stalder, G. R., Bühler, E. M., Weber, J. R. 1963. Possible trisomy in chromosome group 6-12. Lancet, 1: 1379.Google Scholar
Stolte, L., Evers, J., Blankendborg, G. 1964. Possible trisomy in chromosome group 6-12 in a normal woman. Lancet, 2: 480.CrossRefGoogle Scholar
Wolf, U., Reinwein, H. 1965. Chromosomenmosaik C-trisomie/normal. Humangenetik, 1: 686–687.Google Scholar