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Research Article
Unilateral radial aplasia and trisomy 22 mosaicism.
  1. F Dulitzky,
  2. F Shabtal,
  3. J Zlotogora,
  4. I Halbrecht,
  5. E Elian

    Abstract

    A child with unilateral radial aplasia, asymmetry, other malformations, and severe physical and mental retardation is reported. In blood and bone marrow cultures a low mosaicism for trisomy 22 was found. In a few cells a chromosome 22 was missing. The importance of early cytogenetic analysis on large numbers of cells is emphasised, especially in cases of asymmetry where mosaicism is suspected.

    https://doi.org/10.1136/jmg.18.6.473

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