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  • Title: De novo partial 2p duplication with postmortem description.
    Author: Monteleone PL, Blair JD, Graviss ER, Chen SC, Salvador A, Grzegocki JA, Monteleone JA.
    Journal: Am J Med Genet; 1981; 10(1):55-64. PubMed ID: 7197468.
    Abstract:
    An unbalanced karyotype most likely consisting of a partial duplication of the short arm of chromosome 2 (p13 leads to pter) was found in a newborn infant with intrauterine growth retardation, facial, skeletal, and cardiac abnormalities. There was no evidence of a translocation in either parent. At autopsy, striking histopathologic abnormalities were detected in the central nervous system and ovaries.
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