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目的报告9例额外小标记染色体(s SMC)病例,结合文献分析s SMC的特点及临床意义。方法应用外周血淋巴细胞培养、染色体G显带技术对5110例遗传咨询病人进行染色体核型分析。结果发现9例s SMC患者,其中47,XY,+mar 3例,47,XX,+mar 3例,45,X/46,X,+mar 2例,48,XY,+2mar 1例。结论 s SMC具有染色体来源和表型的异质性,G显带核型分析结合多种分子遗传学检测技术可对其进行鉴定。
Objective To report the cases of extra small marker chromosome (s SMC) in 9 cases and to analyze the characteristics and clinical significance of s SMC combined with literature. Methods Chromosome karyotype analysis was performed on 5110 cases of genetic counseling using peripheral blood lymphocyte culture and chromosome G banding technique. Results There were 9 patients with s SMC in 9 cases, including 47 cases with XY, + 3 cases with MAR, 47 cases with XX, + 3 cases with MAR, 45 cases with X, 46 cases with X, 46 cases with X, and 2 cases with MAR. Conclusion s SMC has the heterogeneity of chromosomal origin and phenotype. G-banding karyotype analysis combined with a variety of molecular genetic testing techniques can be identified.