PT  - JOURNAL ARTICLE
AU  - J J M Engelen
AU  - C E M de Die-Smulders
AU  - J M J Sijstermans
AU  - L E C Meers
AU  - J C M Albrechts
AU  - A J H Hamers
TI  - Familial partial trisomy 8p without dysmorphic features and only mild mental retardation
AID  - 10.1136/jmg.32.10.792
DP  - 1995 Oct 01
TA  - Journal of Medical Genetics
PG  - 792--795
VI  - 32
IP  - 10
4099  - http://jmg.bmj.com/content/32/10/792.short
4100  - http://jmg.bmj.com/content/32/10/792.full
SO  - J Med Genet1995 Oct 01; 32
AB  - 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.