Objective to search the forming cause and the correlation between the clinical phenotype and chromosome band by the cytogenetic analysis on a case of ring chromosome 21 syndrome.
目的通过对1例21号环状染色体综合征患者的细胞遗传学分析，探讨21号环状染色体的形成原因，临床表型与染色体区带的关系。
To assess the feasibility of using clinical informations, pathological features, immunohistochemistry and microsatellite analysis to identify patients with the mutator phenotype.
评价应用临床信息，病理学特点和微卫星分析来鉴别具有突变子表型的散发性结直肠癌患者的可行性。
Haplotype analysis indicated that the proband and her daughter Shared the same causative haplotype. Conclusion This is the first report of the phenotype and genotype of AD-EDMD in Chinese.
单倍型分析显示先证者及女儿具有相同的致病单倍型。结论报道了中国人常染色体显性遗传ed MD患者的表现型及基因型。
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