Skip to main content
Log in

Partial and complete trisomy 9: Delineation of a trisomy 9 syndrome

  • Original Investigations
  • Published:
Human Genetics Aims and scope Submit manuscript

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.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

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)

    Google Scholar 

  • Centerwall, W. R., Mayeshi, C. A., Cha, C. C.: Trisomy 9q-. A variant of the 9p trisomy syndrome. Humangenetik 29, 91–98 (1975)

    Google Scholar 

  • Feingold, M., Atkins, L.: A case of trisomy 9. J. med. Genet. 10, 184–187 (1973)

    Google Scholar 

  • Ford, E. H. R.: Human chromosomes, p. 34. London-New York: Academic Press 1973

    Google Scholar 

  • Francke, U., Benirschke, K., Jones, O. W.: Prenatal diagnosis of trisomy 9. Humangenetik 29, 243–250 (1975)

    Google Scholar 

  • 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)

    Google Scholar 

  • 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)

    Google Scholar 

  • 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)

    Google Scholar 

  • 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)

    Google Scholar 

  • 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)

    Google Scholar 

  • 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)

    Google Scholar 

  • Rethoré, M. O., Ferrand, J., Dutrillaux, B., Lejeune, J.: Trisomie 9p par t(4;9)(q34;q21)mat. Ann. Génét. 17, 157–161 (1974)

    Google Scholar 

  • 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)

    Google Scholar 

  • Rethoré, M. O., Lafourcade, J.: Trisomie du bras court du chromosome 9: Syndrome +9p. Journées parisiennes de pédiatrie, pp. 379–390. Paris: Flammarion 1974

    Google Scholar 

  • 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)

    Google Scholar 

  • 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)

    Google Scholar 

  • Schinzel, A., Hayashi, K., Schmid, W.: Mosaic-trisomy and pericentric inversion of chromosome 9 in a malformed boy. Humangenetik 25, 171–177 (1974)

    Google Scholar 

  • 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)

    Google Scholar 

  • 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)

    Google Scholar 

  • Turleau, C., de Grouchy, J., Chavin-Colin, F., Roubin, M., Langmaid, H.: Trisomie 9p: Deux nouvelles observations. Ann. Génét. 17, 167–174 (1974)

    Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints 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

Download citation

  • Received:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00291495

Keywords

Navigation