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Abstract：
Pigmentary mosaicism (PM) is a clinical condition of dyspigmentation with chromosomal abnormality. PM presents with both cutaneous and extracutaneous manifestation. Hypomelanosis of Ito and linear and whorled nevoid hypermelanosis are syndromic disorders in which PM is one of the manifestations. We present a case of a 1-year-old child with a unique constellation of symptoms of unilateral syndactyly, hemihypertrophy, and skin hyperpigmentation. Karyotype from peripheral blood was normal. We found genetic aberration (mosaic 2q35 deletion) in the present case from fibroblast cultured from the affected area. This unique constellation of symptoms was previously reported once but genetic study was not done from the affected tissue. This case highlights the need of considering fibroblast culture-based genetic study rather than doing simple karyotype from peripheral blood. Genetic study also established the molecular basis of symptoms in the above case.
摘要：
色素镶嵌（PM）是一种具有染色体异常的色素沉着不良的临床状况。PM表现为皮肤和皮肤外表现。伊藤低黑色素沉着症和线性和轮状的痣性黑色素沉着症是综合征性疾病，其中PM是表现之一。我们介绍了一个1岁儿童的病例，该儿童具有独特的单侧并肢症状，半肥大,和皮肤色素沉着过度。外周血核型正常。我们在本病例中发现了从患处培养的成纤维细胞的遗传畸变（马赛克2q35缺失）。以前曾报道过这种独特的症状，但并未从受影响的组织进行遗传研究。这种情况突出了考虑基于成纤维细胞培养的遗传研究的需要，而不是从外周血中进行简单的核型。遗传研究也建立了上述病例症状的分子基础。
