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Functional Xp disomy and de novo t(X;13)(q10;q10) in a girl with hypomelanosis of Ito. |
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| Authors: | L S Correa-Cerro H Rivera A I Vasquez |
| 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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