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Case Reports
. 1995 Oct;32(10):792-5.
doi: 10.1136/jmg.32.10.792.

Familial partial trisomy 8p without dysmorphic features and only mild mental retardation

J J Engelen  1 , C E de Die-Smulders, J M Sijstermans, L E Meers, J C Albrechts, A J Hamers
Affiliations
Case Reports

Familial partial trisomy 8p without dysmorphic features and only mild mental retardation

J J Engelen et al. J Med Genet. 1995 Oct.

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 8p21 causes the more severe clinical picture in the latter.

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