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  • Title: 4p terminal deletion and 11p subtelomeric duplication detected by genomic microarray in a patient with Wolf-Hirschhorn syndrome and an atypical phenotype.
    Author: Stevenson DA, Carey JC, Cowley BC, Bayrak-Toydemir P, Mao R, Brothman AR.
    Journal: J Pediatr; 2004 Dec; 145(6):840-2. PubMed ID: 15580214.
    Abstract:
    We report a de novo cryptic 11p duplication found by genomic microarray with a cytogenetically detected 4p deletion. Terminal 4p deletions cause Wolf-Hirschhorn syndrome, but the phenotype probably was modified by the paternally derived 11p duplication. This emphasizes the clinical utility of genomic microarray.
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