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  • Title: A familial pericentric inversion of chromosome 22 with a recombinant subject illustrating a 'pure' partial monosomy syndrome.
    Author: Watt JL, Olson IA, Johnston AW, Ross HS, Couzin DA, Stephen GS.
    Journal: J Med Genet; 1985 Aug; 22(4):283-7. PubMed ID: 4045954.
    Abstract:
    A family in which a pericentric inversion of chromosome 22, inv(22)(p11q12), is segregating is described. Special reference is made to a unique recombinant subject with a 'pure' partial monosomy 22 syndrome of maternal origin. An attempt has been made to correlate the phenotypic abnormalities with monosomy for the segment 22q12----qter.
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