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Autor:
van Ton Essen, R. A. Van Lingen, Robert M.W. Hofstra, Chcm Buys, Jgv Campagne, Katelijne Bouman, Jbgm Verheij, AY van der Veen, B Leegte
Publikováno v:
American Journal of Medical Genetics, 86(2), 168-173. WILEY-LISS
To date, approximately 30 patients have been described with a tetrasomy 9p, all being caused by the presence of an isochromosome 9p, We now report on a 3-year-old boy with a de novo intrachromosomal triplication of 9p13-p22, resulting in partial tetr