Functional Xp disomy and de novo t(X;13)(q10;q10) in a girl with hypomelanosis of Ito.
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.
Correa-Cerro
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LS
División de Genética, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco, México.
Rivera
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H
Vasquez
A I
AI
D000328:Adult; D002648:Child; D002675:Child, Preschool; D002871:Chromosome Banding; D002882:Chromosomes, Human, Pair 13; D004303:Dosage Compensation, Genetic; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D010859:Pigmentation Disorders / Q000235:genetics*; D011003:Ploidies; D014178:Translocation, Genetic; D014960:X Chromosome