Summary
Three cases of partial trisomy for the distal segment of chromosome 13 are reported. Common clinical features included normal birth weight, postnatal asphyxia, convulsions, severe psychomotor retardation, normal growth, and a distinct pattern of dysmorphias consisting of trigonocephalic head with prominent metopic suture, long and markedly curved eyelashes, a stubby nose, increased distance between nose and upper lip, high-arched palate, misshapen ears with virtually absent lobules and prominent anthelices which are curved in a sharp angle, and hemangiomata. Features present in 2 cases were microcephaly, long and narrow fingers with convex nails, and hexadactyly. Two cousins were unbalanced offspring of a large family of carriers of a 9/13 translocation, whereas the third case exhibited a 13p+ chromosome which was formed de novo. The clinical features in the 3 patients are typical of the syndrome due to partial trisomy for the distal segment of chromosome 13 which shows selected and mitigated signs of full trisomy 13.
Similar content being viewed by others
References
Escobar, J. I., Sanchez, O., Yunis, J. J.: Trisomy for the distal segment of chromosome 13. A new syndrome. Amer. J. Dis. Child.128, 217–220 (1974)
Escobar, J. I., Yunis, J. J.: Trisomy for the proximal segment of the long arm of chromosome 13. A new entity? Amer. J. Dis. Child.128, 221–222 (1974)
Hauksdóttir, H., Halldórsson, S., Jensson, O., Mikkelsen, M., McDermott, A.: Pericentric inversion of chromosome No. 13 in a large family leading to duplication deficiency causing congenital malformations in three individuals. J. med. Genet.9, 413–421 (1972)
Hoehn, H., Wolf, U., Schumacher, H., Wehinger, H.: A chromosome 13q+in a patient with characteristics of the trisomy 13 syndrome. Humangenetik13, 34–42 (1971)
Jacobsen, P., Mikkelsen, M., Frøland, A.: Familial transmission of a translocation between two non-homologous large acrocentric chromosomes. Clinical, cytogenetic and autoradiographic studies. Ann. hum. Genet.29, 391–402 (1966)
Macintyre, M. N., Staples, W. I., Lapolla, J. J., et al.: Partial D1 trisomy in a child whose mother and maternal grandmother demonstrate a D/F translocation. Presented at the Annual Meeting of the American Society of Human Genetics, Boulder, Colorado (1964)
McDermott, A., Parrington, J. M.: Elucidation of a pericentric inversion of a D-group chromosome in the mother of a child with Patau's syndrome. Ann. hum. Genet.38, 305–307 (1975)
Parrington, J. M., Edwards, J. H.: Pätau's syndrome with D1 duplication-deficiency derived from a maternal D group pericentric inversion. Ann. hum. Genet.35, 35–45 (1971)
Schinzel, A., Schmid, W., Mürset, G.: Different formes of incomplete trisomy 13. Mosaicism and partial trisomy for the proximal and distal long arm. Report of three cases. Humangenetik22, 287–298 (1974)
Schwanitz, G., Grosse, K.-P., Semmelmayer, U., Mangold, H.: Partielle freie Trisomie 13 in einer Familie mit balancierter Translokation (13q-;16q+). Mschr. Kinderheilk.122, 337–342 (1974)
Seabright, M.: A rapid banding technique for human chromosomes. Lancet1971 II, 971–972
Stalder, G. R., Bühler, E. M.: Eine menschliche Chromosomentranslokation aus dem 18. Jahrhundert. Arch. Klaus-Stift. Vererb.-Forsch.41, 87–93 (1966)
Stalder, G. R., Bühler, E. M., Gadola, G., Widmer, R., Freuler, F.: A family with balanced D1→C8 translocation carriers and unbalanced offspring. Humangenetik1, 197–200 (1964)
Stoll, C., Halb, A.: Trisomie 13 partielle par translocation 46,XX,t(3;13)(p26;q21) maternelle. Pédiatrie29, 725–729 (1974)
Surana, R. B., Conen, P. E.: Inherited pericentric inversion of a group D(13–15) chromosome. J. med. Genet.9, 105–110 (1972)
Taysi, K., Bobrow, M., Balci, S., Madan, K., Atasu, M., Say, B.: Duplication/deficiency product of a pericentric inversion in man: a cause of D1 trisomy syndrome. J. Pediat.82, 263–268 (1973)
Wilroy, R. S., Summitt, R. L., Martens, P. R.: Partial trisomy for different segments of chromosome 13 in several individuals of the same family. Birth Defects, Orig. Art. Ser.XI, No. 5, 217–222 (1975)
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Schinzel, A., Hayashi, K. & Schmid, W. Further delineation of the clinical picture of trisomy for the distal segment of chromosome 13. Hum Genet 32, 1–12 (1976). https://doi.org/10.1007/BF00569970
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF00569970