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  • Title: Trisomy 6q syndrome: a case with a << de novo >> 6q23 tandem duplication.
    Author: Causio F, Fischetto R, Carnevale F, Pansini A, Rocchi M.
    Journal: Genet Couns; 2001; 12(2):145-50. PubMed ID: 11491309.
    Abstract:
    In this study, we report the combined use of whole and partial chromosome 6 painting probe and YACS probes to define the unbalanced region of a de novo 6q+ marker chromosome. A male patient with peculiar features of << distal 6q trisomy syndrome >> showed a direct duplication of 6q23 region. Comparing the phenotype of this child with the phenotype of other << de novo >> partial 6q trisomy, we conclude that band 6q23 has an important role in defining 6q trisomy.
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