Functional Xp disomy and de novo t(X;13)(q10;q10) in a girl with hypomelanosis of Ito.
Open Access
- 1 February 1997
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 34 (2) , 161-163
- https://doi.org/10.1136/jmg.34.2.161
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.Keywords
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