Familial partial trisomy 8p without dysmorphic features and only mild mental retardation.
نویسندگان
چکیده
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 ofpublished 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. (JrMed Genet 1995;32:792-795) Department of Molecular Cell Biology and Genetics, University of Limburg, PO Box 616, 6200 MD Maastricht, The Netherlands
منابع مشابه
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 32 10 شماره
صفحات -
تاریخ انتشار 1995