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Partial monosomy and partial trisomy 18 in two offspring of carrier of pericentric inversion of chromosome 18.
  1. A M Vianna-Morgante,
  2. M J Nozaki,
  3. C C Ortega,
  4. V Coates,
  5. Y Yamamura

    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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