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A case of 18q- in a family with a translocation t(6p+;18q-), identified by the Giemsa-banding technique

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Summary

In a male infant with multiple congenital malformations a deletion of the long arm of chromosome No. 18 was identified by means of the A.S.G. technique. His mother and sister were balanced heterozygotes with the karyotypes 46,XX,t(6p+;18q-).

Zusammenfassung

Bei einem männlichen Neugeborenen mit multiplen Mißbildungen surde mit der ASG-Technik eine Deletion des langen Armes eines Chromosomes 18 identifiziert. Mutter und Schwester des Patienten waren balancierte Heterozygoten mit dem Karyotyp 46,XX,t(6p+;18q-).

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References

  • De Grouchy, J., Royer, P., Salmon, Ch., Lamy, M.: Délétion partielle des bras longs du chromosome 18. Path. et. Biol. 12, 579–582 (1964).

    Google Scholar 

  • Jacobson, P., Mikkelsen, M., Niebuhr, E., De Grouchy, J.: A case of 18q- in a t(18p-;6p+) family. Ann. Génét. 14, 41–48 (1971).

    Google Scholar 

  • Law, E. M., Masterson, J. M.: Familial 18q syndrome. Ann. Génét. 12, 215–222 (1969).

    Google Scholar 

  • Paris Conference (1971): Standardization in Human Cytogenetics. Birth Defects: Original Article Series, Vol. VIII, p. 7. New York: The National Foundation 1972.

  • Rudd, N. L., Lamarche, P. H.: Gene deletion and duplication effects on phenotype and gamma-globulin levels. J. med. Genet. 8, 97–107 (1971).

    Google Scholar 

  • Sumner, A. T., Evans, H. J., Buckland, R. A.: New technique for distinguishing between human chromosomes. Nature (Lond.) New Biol. 232, 31–33 (1971).

    Google Scholar 

  • Valdmanis, A., Pearson, G., Siegel, A. E., Hoeksema, R. H., Mann, J. D.: A pedigree of 4/18 translocation chromosomes 18. Ann. Génét. 10, 159–167 (1967).

    Google Scholar 

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Authors and Affiliations

  1. Department of Human Genetics, State University, Groningen, The Netherlands

    W. L. Gouw, L. P. ten Kate & G. J. P. A. Anders

  2. Department of Pediatrics, State University, Groningen, The Netherlands

    A. Okken

  3. Anthropogenetisch Instituut, Rijksuniversiteit Groningen, Antonius Deusinglaan 4, Groningen, The Netherlands

    W. L. Gouw

Authors
  1. W. L. Gouw
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  2. L. P. ten Kate
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  3. G. J. P. A. Anders
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  4. A. Okken
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Gouw, W.L., ten Kate, L.P., Anders, G.J.P.A. et al. A case of 18q- in a family with a translocation t(6p+;18q-), identified by the Giemsa-banding technique. Hum Genet 19, 123–126 (1973). https://doi.org/10.1007/BF00295240

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  • DOI: https://doi.org/10.1007/BF00295240

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