Summary
Two infants with trisomy involving chromosome 9 are described. One had complete trisomy 9 and the other karyotype 47,XX,+der(9),t(7;9)(p22;q32)mat. A trisomy 9 syndrome is delineated, consisting of features of the trisomy 9p syndrome and various other malformations. These include abnormalities of the cardiovascular and urogenital systems, cranial suture anomalies, dislocation of the hips and knees and early death. A possible relationship of some of these findings to regions of 9q involved in cases of partial trisomy 9 is suggested.
Similar content being viewed by others
References
Bowen, P., Ying, K. L., Chung, G. S. H.: Trisomy 9 mosaicism in a newborn infant with multiple malformations. J. Pediat. 85, 95–97 (1974)
Centerwall, W. R., Mayeshi, C. A., Cha, C. C.: Trisomy 9q-. A variant of the 9p trisomy syndrome. Humangenetik 29, 91–98 (1975)
Feingold, M., Atkins, L.: A case of trisomy 9. J. med. Genet. 10, 184–187 (1973)
Ford, E. H. R.: Human chromosomes, p. 34. London-New York: Academic Press 1973
Francke, U., Benirschke, K., Jones, O. W.: Prenatal diagnosis of trisomy 9. Humangenetik 29, 243–250 (1975)
Fujita, H., Abe, T., Yamamoto, K., Furyama, J.: Possible complex translocation t(9;14;13) (q12;1?;q31) in a mother of a child with 9p trisomy syndrome. Humangenetik 25, 83–92 (1974)
Haslam, R. H. A., Broske, S. P., Moore, C. M., Thomas, G. H., Neill, C. A.: Trisomy 9 mosaicism with multiple congenital anomalies. J. med. Genet. 10, 180–183 (1973)
Juberg, R. C., Gilbert, E. F., Salisbury, R. S.: Trisomy C in an infant with polycystic kidneys and other malformations. J. Pediat. 76, 598–603 (1970)
Lindenbaum, R. H., Bobrow, M.: Reciprocal translocations in man. 3:1 meiotic disjunction resulting in 47-or 45- chromosome offspring. J. med. Genet. 12, 29–43 (1975)
Mason, M. K., Spencer, D. A., Rutter, A.: A case of partial (9p) trisomy in a family with a balanced translocation 46,XX,t(1p+9q-). J. med. Genet. 12, 310–314 (1975)
Penchaszadeh, V. B., Coco, R.: Partial 9 trisomy by 3:1 segregation of balanced maternal translocation (7q+;9q-). J. med. Genet. 12, 301–305 (1975)
Rethoré, M. O., Ferrand, J., Dutrillaux, B., Lejeune, J.: Trisomie 9p par t(4;9)(q34;q21)mat. Ann. Génét. 17, 157–161 (1974)
Rethoré, M. O., Hoehn, H., Rott, H. D., Couturier, J., Dutrillaux, B., Lejeune, J.: Analyse de la trisomie 9p par dénaturation ménagée. A propos d'un nouveau cas. Humangenetik 18, 129–138 (1973)
Rethoré, M. O., Lafourcade, J.: Trisomie du bras court du chromosome 9: Syndrome +9p. Journées parisiennes de pédiatrie, pp. 379–390. Paris: Flammarion 1974
Rethoré, M. O., Larget-Piet, L., Abonyi, D., Boeswillwald, M., Berger, R., Carpentier, S., Cruveiller, J., Dutrillaux, B., Lafourcade, J., Penneau, M., Lejeune, J.: Sur quatre cas de trisomie pour le bras court du chromosome 9. Individualisation d'une nouvelle entite morbide. Ann. Génét. 13, 217–232 (1970)
Rott, H. D., Schwanitz, G., Grosse, K. P.: Partielle Trisomie C9 bei balancierter B4/C9-Translokation bei der Mutter. Z. Kinderheilk. 109, 292–299 (1971)
Schinzel, A., Hayashi, K., Schmid, W.: Mosaic-trisomy and pericentric inversion of chromosome 9 in a malformed boy. Humangenetik 25, 171–177 (1974)
Schwanitz, G., Schamberger, U., Rott, H. D., Wieczorek, V.: Partial trisomy 9 in the case of familial translocation 8/9mat. Ann. Génét. 17, 163–166 (1974)
Turleau, C., de Grouchy, J., Chavin-Colin, F., Roubin, M., Brissand, P. E., Repessé, G., Safar, A., Borniche, P.: Partial trisomy 9q: A new syndrome. Humangenetik 29, 233–241 (1975)
Turleau, C., de Grouchy, J., Chavin-Colin, F., Roubin, M., Langmaid, H.: Trisomie 9p: Deux nouvelles observations. Ann. Génét. 17, 167–174 (1974)
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Sutherland, G.R., Carter, R.F. & Morris, L.L. Partial and complete trisomy 9: Delineation of a trisomy 9 syndrome. Hum Genet 32, 133–140 (1976). https://doi.org/10.1007/BF00291495
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF00291495