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Original article
Familial partial trisomy 8p without dysmorphic features and only mild mental retardation
  1. J J M Engelen1,
  2. C E M de Die-Smulders1,
  3. J M J Sijstermans2,
  4. L E C Meers1,
  5. J C M Albrechts1,
  6. A J H Hamers1
  1. 1Department of Molecular Cell Biology and Genetics, University of Limburg, PO Box 616, 6200 MD Maastricht, The Netherlands
  2. Department of Pediatrics, de Wever Hospital, Heerlen, 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.

    https://doi.org/10.1136/jmg.32.10.792

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