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Research Article
De novo 2q+ masquerading as Smith-Lemli-Opitz syndrome.
  1. A E Donnenfeld,
  2. E H Zackai,
  3. D M McDonald,
  4. R Aquino,
  5. B S Emanuel

    Abstract

    We report a female infant diagnosed shortly after birth as having Smith-Lemli-Opitz syndrome. Despite previously reported normal G banded karyotypes, a high resolution banded chromosome analysis identified 46,XX,2q+. The importance of attention to established features of clinical syndromes, as well as persistence in investigation when diagnostic uncertainties exist, are discussed.

    https://doi.org/10.1136/jmg.24.7.436

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