Abstract
We report on a mother and her two sons who had a direct duplication of chromosome region 8p22-8p23.1 without dysmorphic features and only mild mental retardation. The patients have been studied using G banding, chromosome painting, and FISH using cosmid probes specific for the region 8p23.1-8pter. Comparison of the phenotypes of our patients and of published patients with an inversion duplication of the short arm of chromosome 8 indicates that trisomy for chromosome band 8p2l causes the more severe clinical picture in the latter.
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CITATION STYLE
Engelen, J. J. M., De Die-Smulders, C. E. M., Sijstermans, J. M. J., Meers, L. E. C., Albrechts, J. C. M., & Hamers, A. J. H. (1995). Familial partial trisomy 8p without dysmorphic features and only mild mental retardation. Journal of Medical Genetics, 32(10), 792–795. https://doi.org/10.1136/jmg.32.10.792
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