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-).
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).
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).
Law, E. M., Masterson, J. M.: Familial 18q syndrome. Ann. Génét. 12, 215–222 (1969).
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).
Sumner, A. T., Evans, H. J., Buckland, R. A.: New technique for distinguishing between human chromosomes. Nature (Lond.) New Biol. 232, 31–33 (1971).
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).
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
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
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF00295240