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. 1997 Feb;34(2):161–163. doi: 10.1136/jmg.34.2.161

Functional Xp disomy and de novo t(X;13)(q10;q10) in a girl with hypomelanosis of Ito.

L S Correa-Cerro 1, H Rivera 1, A I Vasquez 1
PMCID: PMC1050873  PMID: 9039996

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.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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