Summary
In the course of chromosome studies of atomic bomb survivors in Hiroshima using the trypsin-G-banding and Q-banding methods, a 40-year-old male was found to have an abnormal banding pattern in the long arm of a chromosome 7, although no such abnormality was detected by ordinary staining method. Since all other chromosomes apparently had normal banding patterns, the abnormality was determined to be a paracentric inversion of a chromosome 7, which is described as 46,XY,inv(7)(q22q31). This is the first demonstration of a possible paracentric inversion in man.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Alfi, O. S., Donnell, G. N., Kramer, S. L.: Partial trisomy of the long arm of chromosome No. 7. J. med. Genet. 10, 187–189 (1973)
Auxier, J. A., Cheka, J. S., Haywood, F. F., Jones, T. D., Thorngate, J. H.: Free-field radiationdose distributions from the Hiroshima and Nagasaki bombings. Hlth Phys. 12, 425–429 (1966)
Beebe, G. W., Usagawa, M.: The major ABCC samples. Atomic Bomb Casualty Commission Tech. Rep. 12-68 (1968)
Carpentier, S., Rethoré, M.-O., Lejeune, J.: Trisomie partielle 7q par translocation familiale t(7;12)(q22;q24). Ann. Génét. 15, 283–286 (1972)
Carson, H.: The selective elimination of inversion dicentric chromatids during meiosis in the eggs of Sciara impatiens. Genetics 31, 95–113 (1946)
Caspersson, T., Lomakka, G., Zech, L.: The 24 fluorescence patterns of the human metaphase chromosomes — distinguishing characters and variability. Hereditas (Lund) 67, 89–102 (1971)
Develing, A. J., Conte, F. A., Epstein, C. J.: A Y-autosome translocation 46,X,t(Yq-:7q+) associated with multiple congenital anomalies. J. Pediat. 82, 495–498 (1973)
Faed, M. J. W., Marrian, V. J., Robertson, J., Robson, E. B., Cook, P. J. L.: Inherited pericentric inversion of chromosome 5: a family with history of neonatal death and a case of the “cri du chat” syndrome. Cytogenetics 11, 400–411 (1972)
Grace, E., Sutherland, G. R., Bain, A. D.: Familial insertional translocation. Lancet 1972 II, 231
Hauksdóttir, H., Halldórsson, S., Jensson, Ó., 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)
Hirschhorn, K., Lucas, M., Wallace, I.: Precise identification of various chromosomal abnormalities. Ann. hum. Genet. 36, 375–379 (1973)
Hungerford, D. a.: Leukocytes cultured from small inocula of whole blood and the preparation of metaphase chromosomes by treatment with hypotonic KCl. Stain Technol. 40, 333–338 (1965)
Jacobs, P. A., Frackiewicz, A., Law, P.: Incidence and mutation rates of structural rearrangements of the autosomes in man. Ann. hum. Genet. 35, 301–319 (1972)
Morić-Petrović, S., Laća, Ž., Kaličanin, P.: Down's syndrome with an atypical G/G translocation derived from familial pericentric inversion in one chromosome of the G group. J. med. Genet. 9, 478–482 (1972)
Paris Conference (1971): Standardization in human cytogenetics. Cytogenetics 11, 313–362 (1972)
Rethoré, M.-O., Lejeune, J., Carpentier, S., Prieur, M., Dutrillaux, B., Seringe, Ph., Rossier, A., Job, J.-C.: Trisomie pour la partie distale du bras court du chromosome 3 chez trois germains. Premier exemple d'insertion chromosomique: ins(7;3)(q31;p21p26). Ann. Génét. 15, 159–165 (1972)
Roberts, P. A.: A positive correlation between crossing over within heterozygous pericentric inversions and reduced egg hatch of Drosophila females. Genetics 56, 179–187 (1967)
Seabright, M.: A rapid banding technique for human chromosomes. Lancet 1971 II, 971–972
Shokeir, M. H. K., Ying, K. L., Pabellow, P.: Deletion of the long arm of chromosome No. 7: Tentative assignment of the kidd(JK) locus. Clin. Genet. 4, 360–368 (1973)
Singleton, J. R.: A mechanism intrinsic to heterozygous inversions affecting observed recombination frequencies in adjacent regions. Genetics 49, 541–560 (1964)
Surana, R. B., Conen, P. E.: Inberited 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)
Tsuchimoto, T., Bühler, E. M., Stalder, G. R., Mayr, A. C., Obrecht, J. P.: Deletion of chromosome 7 in polycythaemia vera. Lancet 1974 I, 566
United Nations Scientific Committee on the Effects of Atomic Radiation (UNSCEAR). General Assembly, Twenty-fourth Session, Suppl. No. 13 (A/7613) 98–155 (1969)
Wahrman, J., Atidia, J., Goitein, R., Cohen, T.: Pericentric inversions of chromosome 9 in two families. Cytogenetics 11, 132–144 (1972)
Wilson, M. G., Towner, J. W., Coffin, G. S., Forsman, I.: Inherited pericentric inversion of chromosome No. 4. Amer. J. hum. Genet. 22, 679–690 (1970)
Zackai, E. H., Breg, W. R.: Ring chromosome 7 with variable phenotypic expression. Cytogenet Cell Genet. 12, 40–48 (1973)
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Shimba, H., Ohtaki, K., Tanabe, K. et al. Paracentric inversion of a human chromosome 7. Hum. Genet. 31, 1–7 (1976). https://doi.org/10.1007/BF00270393
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF00270393