Article
Tetrasomy 9p due to an intrachromosomal triplication of 9p13-p22.
American journal of medical genetics - 10 Sept 1999
Verheij J B, Bouman K, van Lingen R A, van Lookeren Campagne J G, Leegte B, van der Veen A Y, Hofstra R M, Buys C H, van Essen A J
Abstract excerpt
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 tetrasomy 9p. We compared his phenotype with cases of tetrasomy 9p caused by the presence of an extra isochromosome 9p. He has facial anomalies similar to those of cases...
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