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  • Title: Partial trisomy of chromosome 18 (pter leads to q11): a discussion on the identification of the critical segment.
    Author: San Martin V, Fernandez-Novoa C, Hevia A, Novales A, Fornell J, Galera H.
    Journal: Ann Genet; 1981; 24(4):248-50. PubMed ID: 6977308.
    Abstract:
    Partial trisomy for the short arm and the proximal region of the long arm of chromosome 18 was observed in a male child of 4 years of age. The trisomy appeared de novo as a free, practically metacentric chromosome. A review of other cases of partial trisomy 18 suggests that there is a critical segment of the chromosome responsible for typical phenotype of the trisomy 18. In this report we add the description of a new case to the work already carried out in the delimitation of this critical segment.
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