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Pigmentary mosaicism with mosaic chromosome 5p tetrasomy

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Pigmentary mosaicism with mosaic chromosome 5p tetrasomy is described. A 5-year-old girl had phylloid hyperpigmentation segregated in the midline, and neurological deficits. Chromosome analysis performed on blood lymphocytes was normal, whereas skin fibroblasts from affected skin areas revealed chromosomal mosaicism.

Keywords: dyspigmentation; hyperpigmentation; lines of Blaschko; pigmentary mosaicism

Document Type: Research Article

DOI: http://dx.doi.org/10.1046/j.1365-2133.2003.05531.x

Affiliations: 1: Departments of Paediatrics, 2: Dermatology and 3: Clinical Genetics, Odense University Hospital, DK-5000 Odense, Denmark

Publication date: August 1, 2003

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