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。
Genetic analysis indicated that the mutant phenotype was controlled by a single recessive gene.
遗传分析表明该突变体受一对隐性单基因控制。
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。
Taking adaptability as the premise in the formation of species phenotype, it studies the age and size at maturity in evolution, gives them quantitative and qualitative analysis.
以适应性是形成物种表型性状为前提，探讨物种成熟年龄和大小的进化问题，进行定性和定量分析，并对该领域一些卓有成效的研究成果给予总结。
This combination of clinical and genetic data enables the analysis of genotype-phenotype correlations.
临床和遗传数据的这种组合使得基因型-表型相关性分析成为可能。
Genetic analysis indicated that the mutant phenotype was controlled by a single recessive nuclear gene.
遗传分析表明该突变性状受单个隐性核基因控制。
Genetic analysis indicated that the mutant phenotype was controlled by a single recessive nuclear gene.
遗传分析表明该突变性状受单个隐性核基因控制。
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