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目的进一步探讨12p部分三体综合征遗传物质增加与临床表现之间的关系。方法我们对1例具有发育缓慢、精神发育迟滞和面部畸形的13个月大患儿和双亲进行了包括G显带、高分辨和荧光原位杂交(fluorescence in situ hybridization,FISH)分析,同时对包括文献报道的24例12p部分三体进行表型定位分析。结果患者的12p部分三体来源于母亲的平衡易位,小睑的发生可能与剂量关系不大,而是12p13区域存在与眼睑发育有关的基因簇,染色体断裂后直接或者间接的影响了他们的表达或功能,导致眼睑发育异常。结论 12p部分三体的典型症状与特定染色体区域的基因表达或功能有关。
Objective To further investigate the relationship between the increased genetic material of 12p trisomy and its clinical manifestations. Methods We included G-banding, high-resolution, and fluorescence in situ hybridization (FISH) analyzes of a 13-month-old children and their parents with slow development, mental retardation and facial deformity, Including the reported in the literature of 24 cases of 12p trisomic analysis of phenotype. Results The patients’ 12p trisomy originated from the mother’s balanced translocation. The development of the eyelids may not be related to the dose. Instead, the 12p13 region has clusters of genes related to eyelid development. The chromosomes directly or indirectly affect their translocation Expression or function, resulting in eyelid dysplasia. Conclusion The typical symptoms of some of the 12p trisomies are related to the gene expression or function of specific chromosome regions.