Summary
A newborn infant with the clinical features of the Patau syndrome was found to have excess chromosome 13 material present as a tandem translocation involving the short arm of chromosome 6 and the long arm of an extra chromosome 13: 46,XY,t(6;13)(p24;q12). The major part of the long arm of the extra chromosome 13 was attached linearly (tandem translocation) to the short arm of chromosome 6. Both parents were phenotypically and karyotypically normal.
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Jacobs, P. A., Buckton, K. E., Cunningham, C., Newton, M.: An analysis of the break points of structural rearragements in man. J. Med. Genet. 11, 50–64 (1974)
Niebuhr, E.: Partial trisomies and deletions of chromosome 13. In: New chromosomal syndromes, J. J. Yunis, ed. pp. 273–299. New York-San Francisco-London: Academic Press 1977
Nielsen, J., Sillesen, I.: Incidence of chromosome aberrations among 11,148 newborn children. Humangenetik 30, 1–12 (1975)
Noel, B., Quack, B., Rethore, M. O.: Partial deletions and trisomies of chromosome 13;Mapping of bands associated with particular malformations. Clin. Genet. 9, 593–602 (1976)
Rowe, R. D., Uchida, I. A., Char, F.: Heart disease associated with chromosomal abnormalities. In: Heart disease in infancy and childhood, J. D. Keith, R. D. Rowe, P. Vlad, eds., pp. 908–910. New York: Macmillan 1978
Taylor, M. B., Juberg, R. C., Jones, B., Johnson W. A.: Chromosomal variability in the D1 trisomy syndrome. Am. J. Dis. Child. 120, 374–381 (1970)
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Jones, L.A., Taysi, K., Strauss, A.W. et al. Partial trisomy 13 as a result of de novo (6p;13q) translocation. Hum Genet 48, 245–249 (1979). https://doi.org/10.1007/BF00286911
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DOI: https://doi.org/10.1007/BF00286911