■标记染色体上的基因含量的组合,染色体起源,马赛克水平,起源机制(染色体),单亲二分法会影响sSMC的最终表征。几种染色体畸变,包括sSMC,在30%-60%的色素性镶嵌症患者中观察到,在80%以上,染色体异常存在于镶嵌状态。在色素性镶嵌症患者中,sSMC中最具代表性的染色体是3、5、6、9、10、13、15、18、20和X。我们包括了完整的临床,细胞遗传学,和7例与不同染色体起源的SMC相关的色素镶嵌症患者的分子特征。
■患者由三家不同医院的遗传和皮肤科诊断。对外周血进行细胞遗传学和FISH分析,浅色皮肤,和深色皮肤。使用不同的探针进行FISH分析,取决于标记染色体的描述。进行不同的阵列分析。
■到目前为止,在研究的七个案例中,通过FISH或阵列分析成功鉴定了6个染色体的起源.涉及SMC的染色体为6、9、15和18,X。最常见的是中心微小结构。
■到目前为止,这组7例患者构成了与sSMC相关的色素性镶嵌性病例的最大的临床和细胞遗传学精细描述研究。毫无疑问,两种皮肤类型的分析是我们研究的基本部分,因为在每种皮肤类型中发现的细胞系中可能会出现数值差异。本研究中产生的知识将有助于更准确地描述一个非常异质的实体,在未来,分析更多PM患者可能会与这种遗传改变的存在建立更明确的关联.
UNASSIGNED: The combination of gene content on the marker chromosome, chromosomal origin, level of mosaicism, origin mechanism (chromothripsis), and uniparental disomy can influence the final characterization of sSMCs. Several chromosomal aberrations, including sSMCs, have been observed in 30%-60% of patients with pigmentary mosaicism, and in more than 80%, chromosomal abnormalities are present in the mosaic state. In patients with pigmentary mosaicism the most representative chromosomes involved in sSMCs are 3, 5, 6, 9, 10, 13, 15, 18, 20, and X. In this study, we included the complete clinical, cytogenetic, and molecular characterization of seven patients with pigmentary mosaicism associated with the presence of SMCs of different chromosomal origins.
UNASSIGNED: The patients were diagnosed by the Genetics and Dermatology Department of three different hospitals. Cytogenetic and FISH analyses were performed on peripheral blood, light skin, and dark skin. FISH analysis was performed using different probes, depending on the marker chromosome description. Different array analysis was performed.
UNASSIGNED: To date, of the seven cases studied, the chromosomal origins of six were successfully identified by FISH or array analysis. The chromosomes involved in SMCs were 6, 9, 15, and 18, X. The most frequently found was the centric minute structure.
UNASSIGNED: To date, this group of seven patients constitutes the largest clinical and cytogenetically finely described study of cases with pigmentary mosaicism associated with sSMCs. Undoubtedly, analysis of the two skin types is a fundamental part of our study, as numerical differences may occur in the cell lines found in each skin type. The knowledge generated in this study will help delineate a very heterogeneous entity more accurately, and in the future, analyzing more patients with PM will likely establish a more definite association with the presence of this genetic alteration.