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Duplication-deficiency of chromosome 18, resulting from recombination of a paternal pericentric inversion, with a note for genetic counselling

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Summary

A fifth case of rec(18) resulting from recombination of a paternal pericentric inversion is described. The propositus' complement includes a chromosome 18 with partial deletion of the long arm, and partial duplication of the short. The recombination risk is evaluated at 5%. The eventuality of deleterious effects of pericentric inversions is discussed.

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References

  • Aurias, A., Prieur, M., Dutrillaux, B., Lejeune, J.: Systematic analysis of 95 reciprocal translocations of autosomes. Hum. Genet. 45, 259–282 (1978)

    Google Scholar 

  • Boué, A.: Proceedings of the third European conference on prenatal diagnosis and genetic disorders (J. D.Murken, S. S. Rutkowski, eds.). Stuttgart: E. Schwinger, F. Enke 1979

    Google Scholar 

  • Chandley, A.: The chromosomal basis of human infertility. Br. Med. Bull. 35, 181–186 (1979)

    Google Scholar 

  • Dutrillaux, B., Lejeune, J.: Sur une nouvelle technique d'analyse du caryotype humain. C.R. Acad. Sci. (Paris) 272, 2638–2640 (1971)

    Google Scholar 

  • Dutrillaux, B., Laurent, C., Robert, J. M., Lejeune, J.: Inversion pèricentrique, inv(10) chez la mère et aneusomie de recombinaison inv(10),rec(10) chez son fils. Cytogenet. Cell Genet. 12, 245–253 (1973)

    Google Scholar 

  • Dutrillaux, B.: Chromosomal evolution in primates: tentative phylogeny from Microcebus murinus (Prosimian) to man. Hum. Genet. 48, 251–314 (1979)

    Google Scholar 

  • Evan, H. J.: Chromosome anomalies among live births. J. Med. Genet. 14, 309–312 (1977)

    Google Scholar 

  • Ferguson-Smith, M. A.: Human pericentric inversions; their behavior in meiosis and implications for genetic counselling. J Excerpt. Med. 426, 31 (1977)

    Google Scholar 

  • Grouchy, J. de: The 18p-, 18q-and 18r syndrome. Birth Defects 5, 74–87 (1969)

    Google Scholar 

  • Hamerton, J. L., Canning, N., Ray, M., Smith, S.: A cytogenetic survey of 14.069 newborn infants. I. Incidence of chromosome abnormalities. Clin. Genet. 8, 223–243 (1975)

    Google Scholar 

  • Heritage, D. W., English, S. C., Young, R. B., Chen, A. T. L.: Cytogenetics of recurrent abortions. Fertil. Steril. 29, 414–416 (1978)

    Google Scholar 

  • Jacobs, P. A., Frackiewicz, A., Law, P.: Incidence and mutation rates of structural rearrangements of the autosomes in man. Am. J. Hum. Genet. 35, 301–309 (1972)

    Google Scholar 

  • Jacobs, P. A., Melville, M., Ratcliffe, S., Keay, A., Syme, J.: A cytogenetic survey of 11,680 newborn infants. Ann. Hum. Genet. 37, 359–376 (1974)

    Google Scholar 

  • Kukolich, M. K., Althaus, B. W., Sears, J. W., Mankinen, C. B., Lewandowski, R. C.: Abnormalities resulting from a familial pericentric inversion of chromosome 18. Clin. Genet. 14, 98–104 (1978)

    Google Scholar 

  • Moorhead, P. S.: A closer look at chromosomal inversions. Am. J. Hum. Genet. 28, 294–296 (1976)

    Google Scholar 

  • Schaumann, B., Alter, M.: Deletion of chromosome 18. In: Dermatoglyphics in medical disorders, pp. 191–196. Berlin-Heidelberg-New York:Springer 1976

    Google Scholar 

  • Sutherland, G. R., Gardiner, A. J., Carter, R. F.: Familial pericentric inversion of chromosome 19, inv(19)(p13q13) with a note on genetic counselling of pericentric inversion carriers. Clin. Genet. 10, 54–59 (1976)

    Google Scholar 

  • Teyssier, J. R.: Incidence of chromosomal abnormalities in male sterility. Thesis for M. D. Reims (France): No. 24, 1979

  • Turleau, C., Grouchy, J. de: Trisomy 18qter an trisomy mapping of chromosome 18. Clin. Genet. 12, 361–371 (1977)

    Google Scholar 

  • Vianna-Morgante, A. M., Nozaki, M. J., Ortega, C. C., Coates, V., Yamamura, Y.: Partial monosomy and partial trisomy 18 in two offspring of carrier of pericentric inversion of chromosome 18. J. med. Genet. 13, 366–370 (1976)

    Google Scholar 

  • Vigi, V., Maraschio, P., Bosi, G., Guerini, P., Fraccaro, M.: Risk for recombinants in pericentric inversions of the (p11q21) region of chromsome 18. Hum. Genet. 37, 1–5 (1977)

    Google Scholar 

  • Winsor, E. J. T., Palmer, C. G., Ellis, P. M., Hunter, J. L. P., Ferguson-Smith, M. A.: Meiotic analysis of a pericentric inversion, inv(7)(p22q32), in the father of a child with a duplication deletion of chromosome 7. Cytogenet. Cell Genet. 20, 169–184 (1978)

    Google Scholar 

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Authors and Affiliations

  1. Laboratoire de Cytogénètique, CHU de Reims, Hôpital Maison Blanche, 45 rue Cognacq-Jay, F-51100, Reims, France

    J. R. Teyssier & F. Bajolle

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  1. J. R. Teyssier
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  2. F. Bajolle
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Teyssier, J.R., Bajolle, F. Duplication-deficiency of chromosome 18, resulting from recombination of a paternal pericentric inversion, with a note for genetic counselling. Hum Genet 53, 195–200 (1980). https://doi.org/10.1007/BF00273495

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  • DOI: https://doi.org/10.1007/BF00273495

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