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  • Title: Partial duplication 16p resulting from a 3:1 segregation of a maternal reciprocal translocation.
    Author: Mori MA, Gomar JL, Diaz de Bustamante A, Ananias A, Pinel I, Martinez-Frias ML.
    Journal: Am J Med Genet; 1987 Jan; 26(1):203-6. PubMed ID: 3812563.
    Abstract:
    We report on a male infant with a duplication 9p (pter----q13) and duplication 16p (p13----pter) resulting from a 3:1 meiotic disjunction of a maternal reciprocal translocation. In this case, the mode of segregation fits to the Pachytene-Diagram Model of Jalbert et al [1980]. The infant showed clinical features that have been described both in dup(16p) and in dup(9p). To our knowledge, this is the first time that this unbalanced karyotype has been reported.
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