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  • Title: Brachydactyly in a child with duplication-deficiency subsequent to t(15;20)(q25.2;p12.2)mat. Candidate regions on one or both chromosomes?
    Author: Pfeiffer RA, Kändler C, Sieber E, Rauch A, Trautmann U.
    Journal: Clin Genet; 1997 May; 51(5):357-60. PubMed ID: 9212188.
    Abstract:
    We report a child with a duplication-deficiency subsequent to t(15;20)(q25.2;p12.2), transmitted in at least 5 generations, who showed features of 15q- syndrome. We speculate that brachydactyly--most likely because of brachymesophalangism--is a feature of the phenotype of this chromosomal aberration and points to candidate gene(s) in this region. A similar brachydactyly was, however, reported with dup(20p1-pter).
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