A case with a terminal deletion of the long arm of chromosome 7


A malformed female infant with ade novo 7q terminal deletion (q32→qter) resulting from interchange between chromosome 4 and 7 was described. Her phenotype had a close resemblance to those of the previously reported cases. A further delineation of clinical features of 7q terminal deletion syndrome was attempted.


  1. Ayraud, N., Rovinski, J., Lambert, J.C., and Galiana, A. 1976. Délétion interstitielle du bras long d'un chromosome 7 chez une enfant lepréchaune.Ann. Génét. 19: 265–268.

  2. Bernstein, R., Dawson, B., Morcom, G., Wagner, J., and Jenkins, T. 1980. Two unrelated children with distal long arm deletion of chromosome 7: clinical features, cytogenetic and gene marker studies.Clin. Genet. 17: 228–237.

  3. Biederman, B., and Bowen, P. 1978. Balanced t(8;9)(q12;q33) pat carrier with phenotypic abnormalities attributable to ade novo terminal deletion of the long arm of chromosome 7.Human Genet. 41: 101–107.

  4. Crawfurd, M. d'A., Kessel, I., Liberman, M., McKeown, J.A., Mandalia, P.Y., and Ridler, M.A.C. 1979. Partial monosomy 7 with interstitial deletions in two infants with differing congenital abnormalities.J. Med. Genet. 16: 453–460.

  5. Franceschini, P., Silengo, M.C., Davi, G.F., Santoro, M.A., Prandi, G., and Fabris, C. 1978. Interstitial deletion of the long arm of chromosome 7: 46,XX,del(7)(pter→q2200::q3200→qter).Human Genet. 44: 345–348.

  6. Francke, U. 1978. Hageman (factor XII) locus on 7q?Human Genet. 45: 363–367.

  7. Grouchy, J. de, Veslot, J., Bonnette, J., and Roidot, M. 1968. A case of ?6p- chromosomal aberration.Am. J. Dis. Child. 115: 93–99.

  8. Grouchy, J. de, and Turleau, C. 1974. Tentative localization of a Hageman (factor XII) locus on 7q, probably the 7q35 band.Humangenetik 24: 197–200.

  9. Harris, E.L., Wappner, R.S., Palmer, C.G., Hall, B., Dinno, N., Seashore, M.R., and Breg, W.R. 1977. 7q deletion syndrome (7q32→7qter).Clin. Genet. 12: 233–238.

  10. Higginson, G., Weaver, D.D., Magenis, R.E., Prescott, G.H., Haag, C., and Hepburn, D.J. 1976. Interstitial deletion of the long arm of chromosome No. 7 (7q-) in an infant with multiple anomalies.Clin. Genet. 10: 307–312.

  11. Klep-de Pater, J.M., Bijlsma, J.B., Bleeker-Wagemakers, E.M., France, H.F. de, and Vries-Ekkers, C.M.A.M. de 1979. Two cases with different deletions of the long arm of chromosome 7.J. Med. Genet. 16: 151–154.

  12. Kousseff, B.G., Hsu, L.Y.F., Paciuc, S., and Hirschhorn, K. 1977. A partial long arm deletion of chromosome 7: 46,XY,del(7)(q32).J. Med. Genet. 14: 144–147.

  13. Nielsen, K.B., Egede, F., Mouridsen, I., and Mohr, J. 1979. Familial partial 7q monosomy resulting from segregation of an insertional chromosome rearrangement.J. Med. Genet. 16: 461–466.

  14. Seabright, M., and Lewis, G.M. 1978. Interstitial deletion of chromosome 7 detected in three unrelated patients.Human Genet. 42: 223–226.

  15. Shokeir, M.H.K., Ying, K.L., and Pabello, P. 1973. Deletion of the long arm of chromosome No. 7: tentative assignment of the Kidd (Jk) locus.Clin. Genet. 4: 360–368.

  16. Turleau, C., Grouchy, J. de, Perignon, F., and Lenoir, G. 1979. Monosomie 7qter.Ann. Génét. 22: 242–244.

  17. Valentine, H., and Sergovich, F. 1977. A syndrome associated with interstitial deletion of chromosome 7q.Birth Defects Original Article Series 13: 261.

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Kodama, Y., Narahara, K., Yabuuchi, H. et al. A case with a terminal deletion of the long arm of chromosome 7. Jap J Human Genet 25, 329–335 (1980). https://doi.org/10.1007/BF01901735

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  • Cancer Research
  • Close Resemblance
  • Female Infant
  • Deletion Syndrome
  • Terminal Deletion

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