Chemke J, Rappaport S, Etrog R
J Med Genet. 1983 Apr;20(2):135-7. doi: 10.1136/jmg.20.2.135.
A patient is reported with mental retardation, facial and body asymmetry, and hyperpigmented areas limited to the right side of the body. Cytogenetic studies revealed trisomy 18 in 50% of peripheral blood lymphocytes; fibroblast cultures from the hyperpigmented area showed pure trisomy 18, while the karyotype on the unaffected side was normal. This could be an example of the 'lines of Blaschko', considered to be a form of 'human mosaicism', in which an abnormality occurred in melanocytes migrating from the neural crest. Non-disjunction of one chromosome 18 appears to be associated with the mutational event that caused abnormal migration of melanoblasts.
报告了一名患有智力迟钝、面部和身体不对称以及色素沉着区域仅限于身体右侧的患者。细胞遗传学研究显示，50%的外周血淋巴细胞存在18三体；色素沉着区域的成纤维细胞培养显示为单纯的18三体，而未受影响一侧的核型正常。这可能是“布拉斯科线”的一个例子，“布拉斯科线”被认为是“人类嵌合体”的一种形式，其中从神经嵴迁移的黑素细胞发生了异常。一条18号染色体的不分离似乎与导致成黑素细胞异常迁移的突变事件有关。
