TY - JOUR T1 - Functional Xp disomy and de novo t(X;13)(q10;q10) in a girl with hypomelanosis of Ito. JF - Journal of Medical Genetics JO - J Med Genet SP - 161 LP - 163 DO - 10.1136/jmg.34.2.161 VL - 34 IS - 2 AU - L S Correa-Cerro AU - H Rivera AU - A I Vasquez Y1 - 1997/02/01 UR - http://jmg.bmj.com/content/34/2/161.abstract N2 - 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. ER -