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Research Article
46,XY/46,XY,21q- mosaicism in an infant with neutropenia and properdin deficiency.
  1. R L Neu,
  2. J A Stockman,
  3. R E Spitzer,
  4. R H Tomar

    Abstract

    An infant with neutropenia, properdin deficiency, and a 46,XY/46,XY,21q- mosaicism is described. It is not known whether these two findings are related to the missing 21q material. The propositus is normal in appearance, and has none of the phenotypic features associated with the G-group deletion syndromes.

    https://doi.org/10.1136/jmg.13.4.332

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