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额外小标记染色体(small supernumerary marker chromosomes,s SMC)是指形态可辨识,但通过传统细胞遗传学染色体显带技术不能识别其来源和特征的,结构不同于已知的23对染色体的,大小通常等于或小于同一中期染色体核型中的20号染色体的异常染色体[1]。Turner综合征是以X染色体的完全/部分缺失和/或结构异常为细胞遗传学特征、以身材矮小和卵巢发育不全为主要临床表现的一
Small supernumerary marker chromosomes (s SMC) refer to morphologically recognizable but non-identifiable sources and traits by conventional cytogenetic chromosome banding techniques that differ in structure from the known 23 pairs of chromosomes, usually of the size Equal to or less than the same metaphase chromosome karyotype chromosome 20 abnormal chromosome [1]. Turner syndrome is based on the complete / partial deletion and / or structural abnormalities of the X chromosome as cytogenetics, with short stature and ovarian hypoplasia as the main clinical manifestations