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  • Title: Partial monosomy and partial trisomy 18 in two offspring of carrier of pericentric inversion of chromosome 18.
    Author: Vianna-Morgante AM, Nozaki MJ, Ortega CC, Coates V, Yamamura Y.
    Journal: J Med Genet; 1976 Oct; 13(5):366-70. PubMed ID: 1003448.
    Abstract:
    A pericentric inversion of chromosome 18 is described in the mother of a patient with clinical diagnosis of 18q--syndrome. The propositus' chromosome complement includes the recombinant 18 with deficiency of the distal one-third of the long arm and duplication of the terminal segment of the short arm. The propositus' sister carrier the recombinant 18 with a duplication of the distal one-third of the long arm and a deficiency of the terminal segment of the short arm. The relative length of the inverted segment represents about 60% of the total chromosome 18 length. The probability of recombinant formation following the occurrence of a chiasma within the inverted segment is predicted to be high.
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