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

J J Engelen; C E de Die-Smulders; J M Sijstermans; L E Meers; J C Albrechts; A J Hamers

doi:10.1136/jmg.32.10.792

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

J Med Genet. 1995 Oct;32(10):792-5. doi: 10.1136/jmg.32.10.792.

Authors

J J Engelen¹, C E de Die-Smulders, J M Sijstermans, L E Meers, J C Albrechts, A J Hamers

Affiliation

¹ Department of Molecular Cell Biology and Genetics, University of Limburg, Maastricht, The Netherlands.

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.

Publication types

Case Reports

MeSH terms

Child
Chromosomes, Human, Pair 8*
Female
Humans
Intellectual Disability / genetics*
Male
Trisomy*