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  • Title: Terminal tandem duplication of 16p: a case with "pure" partial trisomy (16)(pter-->p13).
    Author: Tschernigg M, Petek E, Leonhardtsberger A, Wagner K, Kroisel PM.
    Journal: Genet Couns; 2002; 13(3):303-7. PubMed ID: 12416638.
    Abstract:
    A new-born infant was found to have multiple congenital anomalies Including bilateral cleft of lip and palate, club-hands and feet, and heart defects. High resolution chromosome analysis showed a de novo tandem duplication of the terminal part of the short arm of chromosome 16, resulting in a dup(16)(pter-->p13). Fluorescent in situ hybridization with a chromosome 16-specific paint confirmed that the extra material belonged to chromosome 16.
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