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  • Title: Duplication 8q24.2----qter and 15q14----pter resulting from a 3:1 meiotic segregation of a maternal reciprocal translocation.
    Author: Kausch K, Haaf T, Schmid M.
    Journal: Am J Med Genet; 1988 Dec; 31(4):981-5. PubMed ID: 3239587.
    Abstract:
    We report on a 16-year-old female with duplication 8q24.2----qter and 15q14----pter resulting from a 3:1 segregation of a maternal balanced reciprocal translocation. This mode of unbalanced segregation could be predicted from Pachytene-diagram drawing. Most of her clinical manifestations can be related to the proximal 15q trisomy. To our knowledge there is only one previous report of a similar chromosome constitution.
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