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Research Article
Functional Xp disomy and de novo t(X;13)(q10;q10) in a girl with hypomelanosis of Ito.
  1. L S Correa-Cerro,
  2. H Rivera,
  3. A I Vasquez
  1. División de Genética, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco, México.

    Abstract

    We report on a 16 month old girl with hypomelanosis of Ito and a balanced de novo (X;13)(q10;q10) translocation in which the der(Xp13q) had the X centromere (as assessed by FISH with the DXZ3 probe). A functional Xp disomy was shown in a small proportion of cultured lymphocytes by means of a BrdU terminal pulse. This observation supports the notion of a distinct form of hypomelanosis of Ito resulting from a functional Xp disomy.

    https://doi.org/10.1136/jmg.34.2.161

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