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  • Title: A de novo complex chromosomal rearrangement involving chromosomes 2, 8 and 13 in a dysmorphic case with polysyndactyly.
    Author: Karaman B, Rosti RO, Yilmaz K, Oztürk H, Kayserili H, Başaran S.
    Journal: Turk J Pediatr; 2009; 51(6):613-6. PubMed ID: 20196399.
    Abstract:
    We report herein a case with dysmorphic features, polysyndactyly and psychomotor mental retardation, who had an apparently balanced de novo translocation between chromosomes 8 and 13 as well as a de novo insertion within chromosome 2 itself. This case is worth mentioning in the sense that it bears two de novo rearrangements with five breakpoints. The correlation between the possible disrupted genes within the given breakpoints and the phenotype of the case will be discussed.
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