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  • Title: First report of mosaic trisomy 12 in a liveborn individual.
    Author: Patil SR, Bosch EP, Hanson JW.
    Journal: Am J Med Genet; 1983 Mar; 14(3):453-60. PubMed ID: 6859097.
    Abstract:
    Trisomy 12 mosaicism was found in a 36-year-old woman with minor anomalies, neuromuscular abnormalities, and moderate mental retardation. Trisomy 12 was present in 13% of the lymphocytes but not in skin fibroblasts. Previous reports of dup (12p) and dup(12q) are reviewed. To our knowledge this is the first report of a "complete" trisomy 12 in a liveborn individual.
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