Summary
A malformed male newborn was first diagnosed as having Smith-Lemli-Opitz syndrome. Extensive cytogenetic studies, including Q, G, C, R and T banding and BudR treatment, were applied, finally leading the authors to conclude that the patient had a partial 2p trisomy caused by direct duplication 2p14→2p23. This was a de novo chromosome abnormality, as both parents had normal karyotypes.
Similar content being viewed by others
References
Bender, K., Reinwein, H., Gorman, L. Z. et al.: Familiäre 2/C-Translokation: 46,XY,t(2p-;Cp+) und 46,XX,Cp+. Humangenetik 8, 94–104 (1969)
Francke, U., Jones, K. L.: The 2p partial trisomy syndrome. Am. J. Dis. Child. 130, 1244–1249 (1976)
Stoll, C., Messer, J., Vors, J.: Translocation t(2;14) équilibrée chez une mère et trisomie partielle d'une partie du bras court d'un chromosome No.2 chez deux de ses enfants. Ann. Genet. (Paris) 17, 193–196 (1974)
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Yunis, E., González, J., Zuñiga, R. et al. Direct duplication 2p14→2p23. Hum Genet 48, 241–244 (1979). https://doi.org/10.1007/BF00286910
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF00286910