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  • Title: Partial trisomy 2q.
    Author: Schumacher RE, Rocchini AP, Wilson GN.
    Journal: Clin Genet; 1983 Mar; 23(3):191-4. PubMed ID: 6851215.
    Abstract:
    An infant with unusual facies and anomalies of brain, heart, and kidney was found to have a simple duplication of the distal long arm of chromosome 2. The clinical features of this case refine the phenotypic spectrum of partial trisomy 2q; prior cases had more complicated chromosomal rearrangements.
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