Hansen L K, Brandrup F, Rasmussen K
Department of Paediatrics, Odense University Hospital, DK-5000 Odense, Denmark.
Br J Dermatol. 2003 Aug;149(2):414-6. doi: 10.1046/j.1365-2133.2003.05531.x.
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.
本文描述了伴有5号染色体短臂四体性的色素镶嵌现象。一名5岁女童中线部位有叶状色素沉着过度，并有神经功能缺损。对血液淋巴细胞进行的染色体分析正常，而对受累皮肤区域的皮肤成纤维细胞进行分析则显示出染色体镶嵌现象。
